ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724
NM_001009944.3(PKD1):c.10320_10337delinsATGGCC (p.Gln3441_Leu3446delinsTrpPro) rs1555448280
NM_001009944.3(PKD1):c.11713-3C>G rs754015180
NM_001009944.3(PKD1):c.11743G>C (p.Ala3915Pro) rs1555445237
NM_001009944.3(PKD1):c.11852T>A (p.Val3951Glu) rs1555445164
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425
NM_001009944.3(PKD1):c.12037T>C (p.Ser4013Pro) rs1555444981
NM_001009944.3(PKD1):c.12407G>A (p.Arg4136Lys) rs768391524
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro) rs1230641065
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12853A>G (p.Thr4285Ala) rs1341672915
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
NM_001009944.3(PKD1):c.1306T>C (p.Cys436Arg) rs1555458892
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1598A>G (p.Gln533Arg) rs2855342
NM_001009944.3(PKD1):c.1602C>T (p.Pro534=) rs759092782
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln) rs1190107349
NM_001009944.3(PKD1):c.3007_3024dup (p.Ser1003_Asn1008dup) rs1555457321
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del) rs1567207029
NM_001009944.3(PKD1):c.3644T>C (p.Leu1215Pro) rs1555456557
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro) rs1567201469
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671
NM_001009944.3(PKD1):c.461C>T (p.Thr154Met) rs1441482246
NM_001009944.3(PKD1):c.4720G>A (p.Ala1574Thr) rs767157522
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr) rs1335408319
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.6836G>A (p.Ser2279Asn) rs368363458
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser) rs1255640370
NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met) rs564570407
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=) rs1567187083
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7714A>G (p.Ile2572Val) rs1555452734
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
NM_001009944.3(PKD1):c.7946C>T (p.Thr2649Ile) rs1490043027
NM_001009944.3(PKD1):c.8246C>T (p.Ala2749Val) rs773014664
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe) rs1555450761
NM_001009944.3(PKD1):c.8911G>A (p.Ala2971Thr) rs1555450667
NM_001009944.3(PKD1):c.9065_9070del (p.Asp3022_Met3023del) rs1555450426
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
NM_001009944.3(PKD1):c.9674_9700del (p.Ala3225_Glu3233del) rs1555449461
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr) rs1210319842
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684

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