ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu) rs748021456 0.00024
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00008
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe) rs142799331 0.00006
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser) rs142733588 0.00005
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00005
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg) rs562768017 0.00004
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu) rs759853409 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln) rs781282665 0.00003
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His) rs776028509 0.00003
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met) rs748496650 0.00003
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00003
NM_001009944.3(PKD1):c.8843C>T (p.Ser2948Leu) rs146250848 0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys) rs143453080 0.00003
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu) rs752349510 0.00002
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191 0.00001
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys) rs762786891 0.00001
NM_001009944.3(PKD1):c.7775C>T (p.Thr2592Ile) rs1458197743 0.00001
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222 0.00001
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051 0.00001
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg) rs1485228851
NM_001009944.3(PKD1):c.1087T>G (p.Cys363Gly) rs2544877825
NM_001009944.3(PKD1):c.10943C>T (p.Pro3648Leu) rs1165539684
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro) rs2544960800
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys) rs866331895
NM_001009944.3(PKD1):c.11411+5G>A rs2544624169
NM_001009944.3(PKD1):c.11713-29_11713-8del rs2544601088
NM_001009944.3(PKD1):c.11713-3C>A rs754015180
NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile) rs1022699284
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys) rs747425659
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del) rs2544596360
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala) rs765414452
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro) rs762207724
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.1816C>G (p.Arg606Gly) rs1256105528
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu) rs1487434772
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys) rs2544856180
NM_001009944.3(PKD1):c.224C>A (p.Ser75Tyr) rs2544886187
NM_001009944.3(PKD1):c.2315T>C (p.Leu772Pro)
NM_001009944.3(PKD1):c.2486C>G (p.Pro829Arg)
NM_001009944.3(PKD1):c.29_40del (p.Ala10_Leu13del) rs2544960691
NM_001009944.3(PKD1):c.3296G>A (p.Gly1099Asp) rs754067527
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu) rs770459654
NM_001009944.3(PKD1):c.4076T>C (p.Leu1359Pro) rs2544825186
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn) rs2544824821
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu) rs2544883158
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys) rs773515214
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del) rs2544820567
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5002G>C (p.Ala1668Pro)
NM_001009944.3(PKD1):c.6025T>C (p.Ser2009Pro) rs2092436796
NM_001009944.3(PKD1):c.6083A>G (p.Tyr2028Cys) rs2092435288
NM_001009944.3(PKD1):c.6131A>G (p.Asn2044Ser) rs2544805619
NM_001009944.3(PKD1):c.6137T>C (p.Leu2046Pro)
NM_001009944.3(PKD1):c.6322C>A (p.Pro2108Thr)
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp) rs755655916
NM_001009944.3(PKD1):c.6553T>G (p.Tyr2185Asp) rs2544802347
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys) rs2544795627
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys) rs1171052012
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr) rs142261601
NM_001009944.3(PKD1):c.7622C>G (p.Pro2541Arg) rs538031465
NM_001009944.3(PKD1):c.7667A>C (p.Gln2556Pro) rs2544777358
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro) rs2092302943
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg) rs2544758004
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro) rs2544746151
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg) rs1567177613
NM_001009944.3(PKD1):c.8501T>C (p.Phe2834Ser)
NM_001009944.3(PKD1):c.8545G>C (p.Ala2849Pro)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu) rs1555450923
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His) rs954124689
NM_001009944.3(PKD1):c.9250T>C (p.Cys3084Arg)
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9403A>G (p.Thr3135Ala)
NM_001009944.3(PKD1):c.9543G>T (p.Lys3181Asn) rs2092047055
NM_001009944.3(PKD1):c.9548G>C (p.Arg3183Pro)
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del) rs2544716082
NM_001009944.3(PKD1):c.9611A>T (p.Asp3204Val) rs1596513913
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9668_9694del (p.Thr3223_Glu3231del) rs2544715242

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