ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro)
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile)
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu)
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr)
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val)
NM_001009944.3(PKD1):c.8161+4C>T rs766547394
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro)
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro)
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala)
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met)
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175

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