ClinVar Miner

List of variants in gene PKD1 reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11257C>G (p.Arg3753Gly) rs1167476946
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro) rs2151695909
NM_001009944.3(PKD1):c.12407G>C (p.Arg4136Thr) rs768391524
NM_001009944.3(PKD1):c.12630delinsCGGGCCGGCTGGGGACAAGGTGTGAGCCC (p.Pro4210_Glu4211insGlyProAlaGlyAspLysValTer)
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys) rs2092659023
NM_001009944.3(PKD1):c.1529G>C (p.Arg510Pro) rs1293305047
NM_001009944.3(PKD1):c.171_174del (p.Thr58fs)
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.2627_2631dup (p.Val878fs) rs1555457807
NM_001009944.3(PKD1):c.297CAA[2] (p.Asn101del) rs2544885084
NM_001009944.3(PKD1):c.3974T>C (p.Leu1325Pro)
NM_001009944.3(PKD1):c.4379dup (p.Glu1461fs) rs2544822303
NM_001009944.3(PKD1):c.4697_4698del (p.Val1566fs) rs2544819296
NM_001009944.3(PKD1):c.479_486dup (p.Gly163fs)
NM_001009944.3(PKD1):c.4897G>T (p.Glu1633Ter) rs773744181
NM_001009944.3(PKD1):c.5609A>G (p.Asn1870Ser) rs2544811132
NM_001009944.3(PKD1):c.5830G>T (p.Gly1944Ter) rs200001471
NM_001009944.3(PKD1):c.5989C>T (p.Gln1997Ter) rs2544806938
NM_001009944.3(PKD1):c.6116A>C (p.Gln2039Pro) rs2092434606
NM_001009944.3(PKD1):c.6793_6807del (p.Tyr2265_Ser2269del) rs2544800034
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.7114T>G (p.Ser2372Ala) rs2544784987
NM_001009944.3(PKD1):c.7118G>A (p.Cys2373Tyr) rs2544784938
NM_001009944.3(PKD1):c.7209+2T>C
NM_001009944.3(PKD1):c.7260CAC[1] (p.Thr2422del)
NM_001009944.3(PKD1):c.772del (p.Thr258fs)
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.8016+1dup
NM_001009944.3(PKD1):c.8016+2T>C rs1596536505
NM_001009944.3(PKD1):c.8161+1G>T rs2544757259
NM_001009944.3(PKD1):c.8161+1dup
NM_001009944.3(PKD1):c.8369del (p.Pro2790fs) rs1057518604
NM_001009944.3(PKD1):c.841del (p.His281fs) rs2544879304
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9794C>A (p.Ser3265Tyr) rs1188643869

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