ClinVar Miner

List of variants reported as pathogenic for polycystic kidney disease 1 by Genomics And Bioinformatics Analysis Resource, Columbia University

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.4387C>T (p.Gln1463Ter) rs1183899324 0.00001
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.11412-2A>C rs1555445771
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638

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