ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.3731C>T (p.Thr1244Ile) rs143624531 0.00093
NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val) rs148496347 0.00091
NM_001009944.3(PKD1):c.11965G>A (p.Gly3989Ser) rs200279710 0.00076
NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr) rs150568356 0.00069
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.9718G>A (p.Ala3240Thr) rs143312683 0.00044
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131 0.00038
NM_001009944.3(PKD1):c.5363G>A (p.Gly1788Asp) rs201778279 0.00031
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.8609G>A (p.Arg2870His) rs200763681 0.00025
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val) rs765067070 0.00019
NM_001009944.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533 0.00016
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.6224G>A (p.Arg2075His) rs200930978 0.00014
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459 0.00012
NM_001009944.3(PKD1):c.7448C>T (p.Ala2483Val) rs759448663 0.00012
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.8755G>A (p.Gly2919Arg) rs139438157 0.00011
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr) rs376769777 0.00008
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.11627C>T (p.Ala3876Val) rs759962601 0.00006
NM_001009944.3(PKD1):c.11978C>T (p.Ser3993Leu) rs775512866 0.00006
NM_001009944.3(PKD1):c.1348C>A (p.Pro450Thr) rs757107371 0.00006
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) rs376754657 0.00006
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala) rs1178172751 0.00006
NM_001009944.3(PKD1):c.8473C>T (p.Leu2825Phe) rs138058871 0.00006
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.6091G>A (p.Val2031Met) rs765389584 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.9724C>G (p.Leu3242Val) rs780284563 0.00003
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu) rs752349510 0.00002
NM_001009944.3(PKD1):c.167T>C (p.Leu56Pro) rs2092940195 0.00001
NM_001009944.3(PKD1):c.3148G>A (p.Glu1050Lys) rs572950870 0.00001
NM_001009944.3(PKD1):c.4339G>A (p.Ala1447Thr) rs535676910 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr) rs760879762 0.00001
NM_001009944.3(PKD1):c.10118C>T (p.Ser3373Leu)
NM_001009944.3(PKD1):c.10151C>T (p.Ser3384Leu)
NM_001009944.3(PKD1):c.10177G>A (p.Val3393Ile)
NM_001009944.3(PKD1):c.10250C>T (p.Thr3417Met)
NM_001009944.3(PKD1):c.10270C>T (p.Leu3424Phe)
NM_001009944.3(PKD1):c.10391C>T (p.Ser3464Phe)
NM_001009944.3(PKD1):c.10433C>T (p.Ala3478Val)
NM_001009944.3(PKD1):c.10447A>C (p.Ser3483Arg)
NM_001009944.3(PKD1):c.10453G>T (p.Ala3485Ser)
NM_001009944.3(PKD1):c.10569C>A (p.Ser3523Arg)
NM_001009944.3(PKD1):c.10604G>C (p.Arg3535Thr)
NM_001009944.3(PKD1):c.10630G>A (p.Gly3544Ser)
NM_001009944.3(PKD1):c.10801C>T (p.Leu3601Phe)
NM_001009944.3(PKD1):c.10821+4A>G
NM_001009944.3(PKD1):c.10910C>T (p.Thr3637Met)
NM_001009944.3(PKD1):c.10924C>A (p.Arg3642Ser)
NM_001009944.3(PKD1):c.11153C>T (p.Thr3718Met)
NM_001009944.3(PKD1):c.11254G>A (p.Val3752Met)
NM_001009944.3(PKD1):c.112C>G (p.Leu38Val) rs1030433875
NM_001009944.3(PKD1):c.11344G>A (p.Asp3782Asn)
NM_001009944.3(PKD1):c.11347G>C (p.Val3783Leu)
NM_001009944.3(PKD1):c.11404C>A (p.Leu3802Met)
NM_001009944.3(PKD1):c.11449G>A (p.Gly3817Arg)
NM_001009944.3(PKD1):c.1151G>A (p.Gly384Asp)
NM_001009944.3(PKD1):c.11623G>A (p.Ala3875Thr)
NM_001009944.3(PKD1):c.11665G>T (p.Ala3889Ser)
NM_001009944.3(PKD1):c.11711C>G (p.Ser3904Trp) rs2091571469
NM_001009944.3(PKD1):c.11954C>G (p.Ser3985Cys)
NM_001009944.3(PKD1):c.1198C>G (p.Arg400Gly)
NM_001009944.3(PKD1):c.12029G>A (p.Arg4010His)
NM_001009944.3(PKD1):c.12076C>G (p.Leu4026Val)
NM_001009944.3(PKD1):c.12131C>T (p.Ala4044Val)
NM_001009944.3(PKD1):c.12170G>A (p.Ser4057Asn)
NM_001009944.3(PKD1):c.12180G>C (p.Gln4060His)
NM_001009944.3(PKD1):c.12184C>G (p.Leu4062Val)
NM_001009944.3(PKD1):c.12226C>G (p.Pro4076Ala)
NM_001009944.3(PKD1):c.12248C>T (p.Ser4083Leu)
NM_001009944.3(PKD1):c.12263T>G (p.Val4088Gly) rs1201701234
NM_001009944.3(PKD1):c.1229C>T (p.Thr410Met)
NM_001009944.3(PKD1):c.12308C>T (p.Ala4103Val)
NM_001009944.3(PKD1):c.12331C>T (p.His4111Tyr)
NM_001009944.3(PKD1):c.12491G>A (p.Arg4164His)
NM_001009944.3(PKD1):c.12665T>C (p.Leu4222Pro)
NM_001009944.3(PKD1):c.12730C>T (p.His4244Tyr)
NM_001009944.3(PKD1):c.12748A>T (p.Arg4250Trp)
NM_001009944.3(PKD1):c.12778C>A (p.Arg4260Ser)
NM_001009944.3(PKD1):c.12811C>T (p.Pro4271Ser)
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His)
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12862A>G (p.Ser4288Gly)
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
NM_001009944.3(PKD1):c.12871C>A (p.Pro4291Thr)
NM_001009944.3(PKD1):c.12905G>A (p.Ser4302Asn)
NM_001009944.3(PKD1):c.1354G>A (p.Val452Met)
NM_001009944.3(PKD1):c.1426G>C (p.Val476Leu)
NM_001009944.3(PKD1):c.1571C>T (p.Ala524Val)
NM_001009944.3(PKD1):c.169C>T (p.Arg57Trp)
NM_001009944.3(PKD1):c.1711G>A (p.Glu571Lys)
NM_001009944.3(PKD1):c.1837C>A (p.Leu613Ile)
NM_001009944.3(PKD1):c.2017C>A (p.Pro673Thr)
NM_001009944.3(PKD1):c.2036C>A (p.Pro679His)
NM_001009944.3(PKD1):c.2107C>T (p.His703Tyr)
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) rs1085307516
NM_001009944.3(PKD1):c.2221C>T (p.Pro741Ser)
NM_001009944.3(PKD1):c.2282C>T (p.Thr761Ile)
NM_001009944.3(PKD1):c.2300G>C (p.Cys767Ser)
NM_001009944.3(PKD1):c.2308C>T (p.Arg770Trp)
NM_001009944.3(PKD1):c.2330A>T (p.Gln777Leu)
NM_001009944.3(PKD1):c.2465C>T (p.Ala822Val)
NM_001009944.3(PKD1):c.2530G>C (p.Ala844Pro)
NM_001009944.3(PKD1):c.2548G>A (p.Asp850Asn)
NM_001009944.3(PKD1):c.2550C>G (p.Asp850Glu)
NM_001009944.3(PKD1):c.2555G>T (p.Gly852Val)
NM_001009944.3(PKD1):c.2662G>C (p.Glu888Gln)
NM_001009944.3(PKD1):c.272C>T (p.Ser91Leu)
NM_001009944.3(PKD1):c.2780C>T (p.Thr927Met)
NM_001009944.3(PKD1):c.2807G>A (p.Arg936His)
NM_001009944.3(PKD1):c.2864C>G (p.Pro955Arg)
NM_001009944.3(PKD1):c.2921C>T (p.Ser974Phe)
NM_001009944.3(PKD1):c.3069G>C (p.Gln1023His) rs568163462
NM_001009944.3(PKD1):c.3119C>T (p.Thr1040Met)
NM_001009944.3(PKD1):c.313A>T (p.Thr105Ser)
NM_001009944.3(PKD1):c.3197A>G (p.Gln1066Arg)
NM_001009944.3(PKD1):c.3269A>G (p.Asn1090Ser)
NM_001009944.3(PKD1):c.3278A>G (p.His1093Arg)
NM_001009944.3(PKD1):c.3296G>A (p.Gly1099Asp)
NM_001009944.3(PKD1):c.3325A>G (p.Asn1109Asp)
NM_001009944.3(PKD1):c.3355C>A (p.Pro1119Thr)
NM_001009944.3(PKD1):c.3499T>C (p.Ser1167Pro)
NM_001009944.3(PKD1):c.3569G>T (p.Arg1190Leu)
NM_001009944.3(PKD1):c.3638G>A (p.Arg1213His)
NM_001009944.3(PKD1):c.3667G>T (p.Val1223Leu)
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
NM_001009944.3(PKD1):c.3695G>C (p.Ser1232Thr)
NM_001009944.3(PKD1):c.3767C>T (p.Pro1256Leu)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.37C>G (p.Leu13Val)
NM_001009944.3(PKD1):c.3827C>T (p.Ala1276Val)
NM_001009944.3(PKD1):c.3851C>G (p.Ala1284Gly)
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
NM_001009944.3(PKD1):c.3893G>T (p.Arg1298Leu)
NM_001009944.3(PKD1):c.3925C>G (p.Pro1309Ala)
NM_001009944.3(PKD1):c.3934C>T (p.Arg1312Trp)
NM_001009944.3(PKD1):c.3937C>T (p.Leu1313Phe)
NM_001009944.3(PKD1):c.3947A>T (p.Tyr1316Phe)
NM_001009944.3(PKD1):c.3964G>T (p.Ala1322Ser)
NM_001009944.3(PKD1):c.3968A>G (p.His1323Arg)
NM_001009944.3(PKD1):c.3971A>G (p.Tyr1324Cys)
NM_001009944.3(PKD1):c.4019G>A (p.Arg1340Gln)
NM_001009944.3(PKD1):c.4294A>G (p.Thr1432Ala)
NM_001009944.3(PKD1):c.4364A>G (p.Asn1455Ser)
NM_001009944.3(PKD1):c.4472G>T (p.Gly1491Val)
NM_001009944.3(PKD1):c.4475G>A (p.Arg1492His)
NM_001009944.3(PKD1):c.4486G>A (p.Ala1496Thr)
NM_001009944.3(PKD1):c.4531C>T (p.Pro1511Ser)
NM_001009944.3(PKD1):c.454G>A (p.Ala152Thr)
NM_001009944.3(PKD1):c.4622A>G (p.Asn1541Ser)
NM_001009944.3(PKD1):c.4640G>C (p.Arg1547Pro)
NM_001009944.3(PKD1):c.4723G>A (p.Gly1575Ser)
NM_001009944.3(PKD1):c.4805G>A (p.Arg1602His)
NM_001009944.3(PKD1):c.4870A>G (p.Ile1624Val)
NM_001009944.3(PKD1):c.4918G>A (p.Gly1640Ser)
NM_001009944.3(PKD1):c.4941C>G (p.Asn1647Lys)
NM_001009944.3(PKD1):c.4963G>T (p.Val1655Leu)
NM_001009944.3(PKD1):c.5003C>T (p.Ala1668Val)
NM_001009944.3(PKD1):c.5146G>C (p.Glu1716Gln)
NM_001009944.3(PKD1):c.5216G>A (p.Ser1739Asn)
NM_001009944.3(PKD1):c.5362G>C (p.Gly1788Arg)
NM_001009944.3(PKD1):c.5401C>A (p.Pro1801Thr)
NM_001009944.3(PKD1):c.5509T>C (p.Trp1837Arg)
NM_001009944.3(PKD1):c.5551C>T (p.His1851Tyr)
NM_001009944.3(PKD1):c.5587T>A (p.Ser1863Thr)
NM_001009944.3(PKD1):c.5588C>A (p.Ser1863Tyr)
NM_001009944.3(PKD1):c.5680G>C (p.Ala1894Pro)
NM_001009944.3(PKD1):c.5786A>T (p.Glu1929Val)
NM_001009944.3(PKD1):c.5865C>A (p.His1955Gln)
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu) rs781454286
NM_001009944.3(PKD1):c.5943G>T (p.Glu1981Asp)
NM_001009944.3(PKD1):c.5957C>T (p.Thr1986Met)
NM_001009944.3(PKD1):c.6041A>G (p.Gln2014Arg)
NM_001009944.3(PKD1):c.6098C>T (p.Ala2033Val)
NM_001009944.3(PKD1):c.6160G>C (p.Val2054Leu)
NM_001009944.3(PKD1):c.6173A>C (p.Gln2058Pro)
NM_001009944.3(PKD1):c.6178G>A (p.Ala2060Thr)
NM_001009944.3(PKD1):c.6220A>C (p.Asn2074His)
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val)
NM_001009944.3(PKD1):c.6265C>T (p.Arg2089Cys)
NM_001009944.3(PKD1):c.6301C>T (p.Pro2101Ser)
NM_001009944.3(PKD1):c.6314C>T (p.Thr2105Ile)
NM_001009944.3(PKD1):c.634G>A (p.Ala212Thr)
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
NM_001009944.3(PKD1):c.650C>T (p.Thr217Ile)
NM_001009944.3(PKD1):c.6515A>G (p.His2172Arg)
NM_001009944.3(PKD1):c.6593C>T (p.Pro2198Leu)
NM_001009944.3(PKD1):c.6622G>A (p.Gly2208Ser)
NM_001009944.3(PKD1):c.6657_6671dup (p.Arg2220_Pro2224dup) rs2151786683
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6784G>A (p.Gly2262Ser)
NM_001009944.3(PKD1):c.6788G>A (p.Gly2263Asp)
NM_001009944.3(PKD1):c.6823G>T (p.Val2275Leu)
NM_001009944.3(PKD1):c.6868G>A (p.Asp2290Asn)
NM_001009944.3(PKD1):c.6943T>C (p.Phe2315Leu) rs2092402838
NM_001009944.3(PKD1):c.6953G>A (p.Arg2318His)
NM_001009944.3(PKD1):c.7084C>T (p.Arg2362Trp)
NM_001009944.3(PKD1):c.710C>T (p.Pro237Leu)
NM_001009944.3(PKD1):c.7112T>C (p.Val2371Ala)
NM_001009944.3(PKD1):c.7169_7171del (p.Glu2390del) rs1555453367
NM_001009944.3(PKD1):c.7190G>A (p.Ser2397Asn)
NM_001009944.3(PKD1):c.7258A>G (p.Thr2420Ala)
NM_001009944.3(PKD1):c.7280C>T (p.Ala2427Val) rs140494005
NM_001009944.3(PKD1):c.7303C>T (p.Arg2435Trp)
NM_001009944.3(PKD1):c.7355G>A (p.Gly2452Asp)
NM_001009944.3(PKD1):c.7457C>G (p.Ala2486Gly)
NM_001009944.3(PKD1):c.7562A>G (p.His2521Arg)
NM_001009944.3(PKD1):c.7612G>A (p.Val2538Met)
NM_001009944.3(PKD1):c.7615C>G (p.Leu2539Val)
NM_001009944.3(PKD1):c.7663G>A (p.Val2555Met) rs2151771585
NM_001009944.3(PKD1):c.7729C>G (p.Pro2577Ala)
NM_001009944.3(PKD1):c.7735G>A (p.Gly2579Ser)
NM_001009944.3(PKD1):c.7762C>G (p.Leu2588Val)
NM_001009944.3(PKD1):c.7852G>A (p.Val2618Met)
NM_001009944.3(PKD1):c.8017G>C (p.Gly2673Arg)
NM_001009944.3(PKD1):c.8045C>G (p.Ser2682Trp)
NM_001009944.3(PKD1):c.8048G>C (p.Cys2683Ser)
NM_001009944.3(PKD1):c.8060C>T (p.Thr2687Met)
NM_001009944.3(PKD1):c.8062C>G (p.Leu2688Val)
NM_001009944.3(PKD1):c.807C>G (p.Phe269Leu)
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu) rs141717814
NM_001009944.3(PKD1):c.8270C>T (p.Ser2757Phe)
NM_001009944.3(PKD1):c.8371C>T (p.Arg2791Trp)
NM_001009944.3(PKD1):c.8392G>A (p.Gly2798Ser)
NM_001009944.3(PKD1):c.8413C>T (p.His2805Tyr)
NM_001009944.3(PKD1):c.8459G>T (p.Ser2820Ile) rs750662535
NM_001009944.3(PKD1):c.857C>G (p.Ser286Cys)
NM_001009944.3(PKD1):c.8671G>A (p.Ala2891Thr)
NM_001009944.3(PKD1):c.8678C>T (p.Ser2893Phe)
NM_001009944.3(PKD1):c.8708C>T (p.Ala2903Val)
NM_001009944.3(PKD1):c.8747C>T (p.Pro2916Leu)
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8795A>T (p.His2932Leu)
NM_001009944.3(PKD1):c.884C>A (p.Ala295Asp)
NM_001009944.3(PKD1):c.8890C>T (p.Arg2964Cys)
NM_001009944.3(PKD1):c.8891G>A (p.Arg2964His)
NM_001009944.3(PKD1):c.8942C>A (p.Ser2981Tyr)
NM_001009944.3(PKD1):c.911G>T (p.Arg304Leu)
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336
NM_001009944.3(PKD1):c.9233T>C (p.Met3078Thr)
NM_001009944.3(PKD1):c.9511G>T (p.Ala3171Ser)
NM_001009944.3(PKD1):c.965C>T (p.Ser322Leu)
NM_001009944.3(PKD1):c.9668C>T (p.Thr3223Met)
NM_001009944.3(PKD1):c.9709G>A (p.Ala3237Thr)
NM_001009944.3(PKD1):c.9736C>T (p.Arg3246Trp)
NM_001009944.3(PKD1):c.9873C>G (p.Phe3291Leu)
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
NM_001009944.3(PKD1):c.9994G>T (p.Val3332Phe)

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