ClinVar Miner

List of variants reported as pathogenic for Polycystic kidney disease, adult type by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.8017-2_8017-1del rs1567180636 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.10008_10009dup (p.Tyr3337fs)
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10118C>A (p.Ser3373Ter)
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10280dup (p.Ser3428fs) rs2151726918
NM_001009944.3(PKD1):c.10459dup (p.Thr3487fs) rs2151725680
NM_001009944.3(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.3(PKD1):c.10724G>A (p.Trp3575Ter) rs1361283193
NM_001009944.3(PKD1):c.10748del (p.Gly3583fs) rs2151708652
NM_001009944.3(PKD1):c.11538-2A>C
NM_001009944.3(PKD1):c.11623del (p.Ala3875fs) rs2151695526
NM_001009944.3(PKD1):c.11693C>A (p.Ser3898Ter) rs2091572700
NM_001009944.3(PKD1):c.11935C>T (p.Gln3979Ter)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter) rs777269070
NM_001009944.3(PKD1):c.12057_12061dup (p.Arg4021fs)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12444+1G>A rs2091431794
NM_001009944.3(PKD1):c.12596_12612del (p.Val4199fs)
NM_001009944.3(PKD1):c.12657dup (p.Glu4220fs) rs2151676915
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.1385+1G>T
NM_001009944.3(PKD1):c.165_171del (p.Leu56fs) rs1555462438
NM_001009944.3(PKD1):c.1660C>T (p.Gln554Ter)
NM_001009944.3(PKD1):c.1987C>T (p.Gln663Ter)
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2968_2969delinsT (p.Ala990fs)
NM_001009944.3(PKD1):c.3381_3387dup (p.Ala1130fs)
NM_001009944.3(PKD1):c.3812_3813del (p.Thr1271fs)
NM_001009944.3(PKD1):c.3883G>T (p.Glu1295Ter) rs780119305
NM_001009944.3(PKD1):c.4070del (p.Leu1357fs) rs1596560540
NM_001009944.3(PKD1):c.4105dup (p.His1369fs)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4444C>T (p.Gln1482Ter) rs1567200117
NM_001009944.3(PKD1):c.4617G>A (p.Trp1539Ter) rs2151796950
NM_001009944.3(PKD1):c.4650dup (p.Leu1551fs)
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
NM_001009944.3(PKD1):c.4888C>T (p.Gln1630Ter)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs)
NM_001009944.3(PKD1):c.5776del (p.Ala1926fs) rs2092444151
NM_001009944.3(PKD1):c.6115del (p.Gln2039fs)
NM_001009944.3(PKD1):c.6137del (p.Leu2046fs) rs2092433875
NM_001009944.3(PKD1):c.6288_6289del (p.Phe2096fs)
NM_001009944.3(PKD1):c.6394TTC[1] (p.Phe2133del) rs1555454460
NM_001009944.3(PKD1):c.6795C>G (p.Tyr2265Ter) rs1312494071
NM_001009944.3(PKD1):c.7008C>G (p.Tyr2336Ter) rs2092401442
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7113_7114dup (p.Ser2372fs)
NM_001009944.3(PKD1):c.7139_7145del (p.Glu2380fs) rs2092356759
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7642G>T (p.Glu2548Ter) rs28369051
NM_001009944.3(PKD1):c.7816C>T (p.Gln2606Ter) rs2092321142
NM_001009944.3(PKD1):c.7833_7835del (p.Tyr2611_Ser2612delinsTer)
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys) rs1452322332
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys) rs2092203712
NM_001009944.3(PKD1):c.8327_8339dup (p.Glu2780fs)
NM_001009944.3(PKD1):c.8645G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.9051C>A (p.Tyr3017Ter)
NM_001009944.3(PKD1):c.9383G>A (p.Trp3128Ter)
NM_001009944.3(PKD1):c.9683dup (p.Leu3229fs) rs2151740671
NM_001009944.3(PKD1):c.9874del (p.Leu3292fs)

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