ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by GeneDx

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Total variants: 27
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HGVS dbSNP
NM_001009944.3(PKD1):c.1075C>G (p.Leu359Val) rs1057524759
NM_001009944.3(PKD1):c.12146C>T (p.Ser4049Phe) rs757666977
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12640C>T (p.Arg4214Cys) rs569380424
NM_001009944.3(PKD1):c.1886C>G (p.Ser629Cys) rs569768187
NM_001009944.3(PKD1):c.1999A>G (p.Asn667Asp) rs1351098350
NM_001009944.3(PKD1):c.2152C>A (p.Gln718Lys) rs1555458032
NM_001009944.3(PKD1):c.2161G>A (p.Ala721Thr) rs1085307516
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552
NM_001009944.3(PKD1):c.3796C>T (p.Arg1266Trp) rs376754657
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4195_4196inv (p.Trp1399Gln) rs1555456192
NM_001009944.3(PKD1):c.5093G>C (p.Arg1698Pro) rs569887918
NM_001009944.3(PKD1):c.5203A>T (p.Ser1735Cys) rs1064796417
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291
NM_001009944.3(PKD1):c.5852G>A (p.Arg1951Gln) rs137905643
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892
NM_001009944.3(PKD1):c.8497C>T (p.Pro2833Ser) rs1057523051
NM_001009944.3(PKD1):c.8620G>A (p.Val2874Met) rs574287355
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879
NM_001009944.3(PKD1):c.8932_8934TTC[1] (p.Phe2979del) rs1358948221
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9788G>C (p.Trp3263Ser) rs1555449378

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