ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 39
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HGVS dbSNP
NM_000296.3(PKD1):c.10027C>T (p.Leu3343Phe)
NM_000296.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706
NM_000296.3(PKD1):c.10165G>A (p.Glu3389Lys)
NM_000296.3(PKD1):c.11954C>T (p.Ala3985Val) rs528213425
NM_000296.3(PKD1):c.12640C>T (p.Leu4214Phe) rs757068311
NM_000296.3(PKD1):c.1384A>G (p.Arg462Gly) rs1555458865
NM_000296.3(PKD1):c.1617G>C (p.Gln539His)
NM_000296.3(PKD1):c.1685A>G (p.Gln562Arg)
NM_000296.3(PKD1):c.2879G>A (p.Gly960Asp)
NM_000296.3(PKD1):c.2885A>G (p.Asp962Gly)
NM_000296.3(PKD1):c.2902A>G (p.Thr968Ala) rs1555457457
NM_000296.3(PKD1):c.2942T>C (p.Val981Ala) rs1555457440
NM_000296.3(PKD1):c.3159C>T (p.Phe1053=) rs369632433
NM_000296.3(PKD1):c.3667G>A (p.Val1223Met)
NM_000296.3(PKD1):c.4148T>A (p.Val1383Asp)
NM_000296.3(PKD1):c.4217C>T (p.Pro1406Leu) rs1258742494
NM_000296.3(PKD1):c.4756G>A (p.Asp1586Asn)
NM_000296.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300
NM_000296.3(PKD1):c.5037C>A (p.Ser1679Arg)
NM_000296.3(PKD1):c.5648C>T (p.Ala1883Val)
NM_000296.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_000296.3(PKD1):c.662T>C (p.Leu221Pro)
NM_000296.3(PKD1):c.665C>A (p.Ala222Glu)
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000296.3(PKD1):c.6784G>C (p.Gly2262Arg)
NM_000296.3(PKD1):c.7145G>T (p.Ser2382Ile) rs1555453383
NM_000296.3(PKD1):c.7993G>A (p.Ala2665Thr) rs764822533
NM_000296.3(PKD1):c.8194C>T (p.Arg2732Trp)
NM_000296.3(PKD1):c.8777A>G (p.Tyr2926Cys) rs1229120097
NM_000296.3(PKD1):c.8828C>T (p.Ala2943Val)
NM_000296.3(PKD1):c.9067A>G (p.Met3023Val)
NM_000296.3(PKD1):c.9124G>A (p.Val3042Ile)
NM_000296.3(PKD1):c.9199C>T (p.Pro3067Ser)
NM_000296.3(PKD1):c.9377C>T (p.Thr3126Ile)
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000296.3(PKD1):c.9815G>A (p.Arg3272His) rs1452116333
NM_000296.3:c.2783_2785delCGG
NM_001009944.2(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569
NM_001009944.2(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397

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