ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NM_001009944.2(PKD1):c.8017-?_8161+?dup
NM_001009944.3(PKD1):c.1201+1G>A
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.1295C>A (p.Ala432Glu) rs1060499699
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.2861del (p.Ser954fs) rs1555457482
NM_001009944.3(PKD1):c.3262_3263insT (p.Glu1088fs)
NM_001009944.3(PKD1):c.3436T>G (p.Phe1146Val) rs1555456744
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs)
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Arg1298_Val1299insThr) rs1567202189
NM_001009944.3(PKD1):c.4161_4162AG[2] (p.Arg1389fs) rs1555456208
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.5693dup (p.Val1899fs) rs1567195868
NM_001009944.3(PKD1):c.5855dup (p.Lys1953fs) rs1555454886
NM_001009944.3(PKD1):c.6197T>C (p.Leu2066Pro) rs1555454606
NM_001009944.3(PKD1):c.6832G>A (p.Gly2278Arg) rs1555454145
NM_001009944.3(PKD1):c.6916-9G>A rs1567190244
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.7904dup (p.Arg2636fs)
NM_001009944.3(PKD1):c.8005del (p.Ala2669fs)
NM_001009944.3(PKD1):c.8201_8202CA[1] (p.Gln2735fs)
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
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.9157G>A (p.Ala3053Thr)
NM_001009944.3(PKD1):c.9185T>A (p.Val3062Asp) rs1057518856
NM_001009944.3(PKD1):c.9455_9516dup (p.Pro3173fs)
NM_001009944.3(PKD1):c.9568G>T (p.Gly3190Trp) rs1060499704
NM_001009944.3(PKD1):c.9755_9757del (p.Glu3252_Leu3253delinsVal) rs1057516202
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376

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