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NPHP1, DEL
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NPHP1, DEL
HGVS Expressions
Associated Genes
Nephrocystin 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Clinvar
3511
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609583.1
Lebanon
2
Pathogenic
Joubert Syndrome 4
Jalkh et al. 2019
Joubert Syndrome
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Contributors
Pratibha Nair: 17.11.2020
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Pratibha Nair: 17.11.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
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Jordan
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Mauritania
Morocco
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Palestine
Qatar
Saudi Arabia
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Sudan
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Yemen
Arab Countries with reported incidence
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