ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic for Polycystic kidney disease, adult type

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Total variants: 14
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HGVS dbSNP
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.488G>T (p.Gly163Val) rs1282205691
NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter) rs1567196052
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp) rs1114167370
NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr) rs1555453207
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg) rs1555450920
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs) rs1555459084
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202

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