ClinVar Miner

List of variants in gene PKD1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632 0.30741
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00360
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val) rs139917246 0.00140
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597 0.00128
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943 0.00110
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00061
NM_001009944.3(PKD1):c.8905C>G (p.Gln2969Glu) rs200520583 0.00058
NM_001009944.3(PKD1):c.10240G>A (p.Gly3414Ser) rs371762181 0.00040
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile) rs200049385 0.00027
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671 0.00023
NM_001009944.3(PKD1):c.8281C>T (p.Arg2761Cys) rs138256927 0.00021
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00020
NM_001009944.3(PKD1):c.7463C>T (p.Thr2488Ile) rs755367165 0.00019
NM_001009944.3(PKD1):c.11412-6C>T rs367775096 0.00018
NM_001009944.3(PKD1):c.12818G>A (p.Arg4273His) rs200446880 0.00018
NM_001009944.3(PKD1):c.1889C>T (p.Pro630Leu) rs556265337 0.00015
NM_001009944.3(PKD1):c.2017C>G (p.Pro673Ala) rs372961544 0.00015
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val) rs550768338 0.00015
NM_001009944.3(PKD1):c.4193C>T (p.Ala1398Val) rs147796956 0.00013
NM_001009944.3(PKD1):c.419C>T (p.Ala140Val) rs758309702 0.00013
NM_001009944.3(PKD1):c.2221C>T (p.Pro741Ser) rs753325067 0.00011
NM_001009944.3(PKD1):c.3854G>A (p.Arg1285Gln) rs368189158 0.00010
NM_001009944.3(PKD1):c.4823A>G (p.Asn1608Ser) rs370634315 0.00010
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val) rs773989174 0.00009
NM_001009944.3(PKD1):c.10530G>A (p.Thr3510=) rs150681642 0.00009
NM_001009944.3(PKD1):c.11135G>A (p.Arg3712Gln) rs144624467 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.2213C>T (p.Pro738Leu) rs556791789 0.00008
NM_001009944.3(PKD1):c.10366G>A (p.Ala3456Thr) rs370498086 0.00007
NM_001009944.3(PKD1):c.6209C>G (p.Pro2070Arg) rs754944119 0.00007
NM_001009944.3(PKD1):c.8195G>A (p.Arg2732Gln) rs78185588 0.00007
NM_001009944.3(PKD1):c.9006G>A (p.Ser3002=) rs367709319 0.00007
NM_001009944.3(PKD1):c.5483A>G (p.Gln1828Arg) rs563854855 0.00006
NM_001009944.3(PKD1):c.10663G>A (p.Ala3555Thr) rs756463775 0.00005
NM_001009944.3(PKD1):c.1837C>A (p.Leu613Ile) rs769063419 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.2524G>A (p.Gly842Ser) rs542875543 0.00005
NM_001009944.3(PKD1):c.6577G>A (p.Ala2193Thr) rs371909255 0.00005
NM_001009944.3(PKD1):c.7656C>T (p.Ala2552=) rs564339628 0.00005
NM_001009944.3(PKD1):c.880A>G (p.Ile294Val) rs780058314 0.00005
NM_001009944.3(PKD1):c.8852G>A (p.Arg2951Gln) rs555635571 0.00005
NM_001009944.3(PKD1):c.1162G>A (p.Ala388Thr) rs772111757 0.00004
NM_001009944.3(PKD1):c.12039C>T (p.Ser4013=) rs200796474 0.00003
NM_001009944.3(PKD1):c.1624G>A (p.Glu542Lys) rs570811509 0.00003
NM_001009944.3(PKD1):c.2495G>A (p.Arg832His) rs565256491 0.00003
NM_001009944.3(PKD1):c.3620G>A (p.Arg1207His) rs771645362 0.00003
NM_001009944.3(PKD1):c.4656C>T (p.Val1552=) rs961711184 0.00003
NM_001009944.3(PKD1):c.4876G>A (p.Val1626Ile) rs764356283 0.00003
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His) rs776028509 0.00003
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.7741G>A (p.Ala2581Thr) rs773620699 0.00003
NM_001009944.3(PKD1):c.8851C>T (p.Arg2951Trp) rs369731124 0.00003
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val) rs779137772 0.00003
NM_001009944.3(PKD1):c.1133A>G (p.Gln378Arg) rs2092665938 0.00002
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu) rs1183794501 0.00002
NM_001009944.3(PKD1):c.12800G>A (p.Arg4267Gln) rs771965935 0.00002
NM_001009944.3(PKD1):c.503G>C (p.Gly168Ala) rs892397726 0.00002
NM_001009944.3(PKD1):c.1643C>T (p.Ala548Val) rs768613812 0.00001
NM_001009944.3(PKD1):c.1754G>A (p.Arg585His) rs753885924 0.00001
NM_001009944.3(PKD1):c.220G>A (p.Val74Ile) rs1048339818 0.00001
NM_001009944.3(PKD1):c.2372G>A (p.Arg791Gln) rs751278485 0.00001
NM_001009944.3(PKD1):c.748G>A (p.Gly250Ser) rs764726506 0.00001
NM_001009944.3(PKD1):c.1006G>A (p.Val336Met)
NM_001009944.3(PKD1):c.10451C>T (p.Pro3484Leu)
NM_001009944.3(PKD1):c.11082C>G (p.Cys3694Trp)
NM_001009944.3(PKD1):c.11157-29G>T
NM_001009944.3(PKD1):c.11414C>T (p.Ala3805Val)
NM_001009944.3(PKD1):c.11737C>T (p.His3913Tyr) rs771945881
NM_001009944.3(PKD1):c.11828C>T (p.Ala3943Val)
NM_001009944.3(PKD1):c.1199G>A (p.Arg400Gln)
NM_001009944.3(PKD1):c.12313A>C (p.Ile4105Leu) rs536724092
NM_001009944.3(PKD1):c.12455A>C (p.Lys4152Thr)
NM_001009944.3(PKD1):c.12714G>T (p.Gln4238His)
NM_001009944.3(PKD1):c.1681G>A (p.Ala561Thr)
NM_001009944.3(PKD1):c.2018C>T (p.Pro673Leu)
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2143G>A (p.Val715Ile)
NM_001009944.3(PKD1):c.2258A>T (p.His753Leu)
NM_001009944.3(PKD1):c.3214A>G (p.Asn1072Asp)
NM_001009944.3(PKD1):c.3216C>G (p.Asn1072Lys)
NM_001009944.3(PKD1):c.3328G>A (p.Ala1110Thr)
NM_001009944.3(PKD1):c.3373T>G (p.Ser1125Ala)
NM_001009944.3(PKD1):c.3548C>G (p.Ser1183Trp)
NM_001009944.3(PKD1):c.3599C>T (p.Ala1200Val) rs753833996
NM_001009944.3(PKD1):c.3868C>G (p.Leu1290Val)
NM_001009944.3(PKD1):c.3931G>T (p.Ala1311Ser) rs146169133
NM_001009944.3(PKD1):c.5037C>A (p.Ser1679Arg) rs144091742
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu) rs577487876
NM_001009944.3(PKD1):c.5357C>A (p.Pro1786Gln)
NM_001009944.3(PKD1):c.5380G>A (p.Val1794Met)
NM_001009944.3(PKD1):c.5390A>G (p.Asp1797Gly)
NM_001009944.3(PKD1):c.5542C>T (p.Arg1848Cys)
NM_001009944.3(PKD1):c.5857A>G (p.Lys1953Glu)
NM_001009944.3(PKD1):c.6868G>T (p.Asp2290Tyr) rs550509675
NM_001009944.3(PKD1):c.6936G>A (p.Ala2312=)
NM_001009944.3(PKD1):c.7496A>G (p.His2499Arg)
NM_001009944.3(PKD1):c.9115C>A (p.Arg3039Ser) rs200522524
NM_001009944.3(PKD1):c.937G>A (p.Glu313Lys)
NM_001009944.3(PKD1):c.9714C>T (p.Ser3238=)
NM_001009944.3(PKD1):c.9958G>A (p.Val3320Ile)

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