ClinVar Miner

List of variants reported as uncertain significance for Polycystic kidney disease, adult type by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr) rs111458906 0.00011
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro) rs1596576007
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del) rs2092536449
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro) rs2092477293
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile) rs1596558469
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro) rs2092204988
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del) rs1394021424
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512

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