ClinVar Miner

List of variants in gene PKD1 reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NM_001009944.3(PKD1):c.10051-25G>A rs150399422
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=)
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935
NM_001009944.3(PKD1):c.10406-4C>T rs151095649
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=)
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703
NM_001009944.3(PKD1):c.1607-27C>T rs4787158
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.1849+21_1849+34del
NM_001009944.3(PKD1):c.1850-4A>G rs35929659
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.216-38G>A
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168
NM_001009944.3(PKD1):c.2853+23C>T
NM_001009944.3(PKD1):c.2854-5C>T rs114846412
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-20G>A
NM_001009944.3(PKD1):c.288-21C>T
NM_001009944.3(PKD1):c.288-32A>G
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3296-15G>A rs201704201
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=)
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711
NM_001009944.3(PKD1):c.7065+21G>A
NM_001009944.3(PKD1):c.7066-5G>A rs372745980
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782
NM_001009944.3(PKD1):c.7489+30C>T
NM_001009944.3(PKD1):c.7490-10C>T
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767
NM_001009944.3(PKD1):c.7863+11C>T rs368629973
NM_001009944.3(PKD1):c.7863+13T>C rs115024665
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)
NM_001009944.3(PKD1):c.8016+26T>C rs9934488
NM_001009944.3(PKD1):c.8017-29C>T rs546456429
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8161+21T>C rs4786209
NM_001009944.3(PKD1):c.8161+29G>A rs375810914
NM_001009944.3(PKD1):c.8161+38G>A rs57922772
NM_001009944.3(PKD1):c.8161+8G>A rs199569003
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642
NM_001009944.3(PKD1):c.8791+13G>A
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309
NM_001009944.3(PKD1):c.8948+11C>T rs147923678
NM_001009944.3(PKD1):c.8948+12G>A
NM_001009944.3(PKD1):c.8948+17A>G rs9928442
NM_001009944.3(PKD1):c.8949-17A>G rs9928278
NM_001009944.3(PKD1):c.8949-20G>A rs9936029
NM_001009944.3(PKD1):c.8949-4C>T
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.3(PKD1):c.9569-11C>T
NM_001009944.3(PKD1):c.9569-13T>C rs11248911
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=)
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590

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