ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Department of Pathology and Laboratory Medicine,Sinai Health System

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Total variants: 27
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HGVS dbSNP
NM_001009944.3(PKD1):c.10303C>T (p.Arg3435Trp) rs562831339
NM_001009944.3(PKD1):c.1202-8G>A rs560799680
NM_001009944.3(PKD1):c.1606G>A (p.Gly536Ser) rs1555458683
NM_001009944.3(PKD1):c.215+4_215+5insACAG rs1555462432
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031
NM_001009944.3(PKD1):c.3242C>T (p.Ser1081Leu) rs377441860
NM_001009944.3(PKD1):c.3295+12G>C rs1397385522
NM_001009944.3(PKD1):c.3334G>A (p.Glu1112Lys) rs770755888
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131
NM_001009944.3(PKD1):c.4220C>T (p.Pro1407Leu) rs140412120
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5753C>T (p.Thr1918Ile) rs878915702
NM_001009944.3(PKD1):c.7265C>A (p.Thr2422Lys) rs1555453210
NM_001009944.3(PKD1):c.7375G>T (p.Gly2459Cys) rs1555453102
NM_001009944.3(PKD1):c.773C>T (p.Thr258Ile) rs754889452
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485
NM_001009944.3(PKD1):c.8237G>A (p.Arg2746Gln) rs1800569
NM_001009944.3(PKD1):c.8287_8289del (p.Leu2763del) rs1555451280
NM_001009944.3(PKD1):c.8411G>A (p.Cys2804Tyr) rs1555451184
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549
NM_001009944.3(PKD1):c.8791+5G>C rs751652400
NM_001009944.3(PKD1):c.8948+15C>T rs778271516
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980

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