ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.9562A>G (p.Asn3188Asp) rs1384099162 0.00001
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2]) rs777460677
NM_001009944.3(PKD1):c.10821+1G>A rs1596488823
NM_001009944.3(PKD1):c.11249G>C (p.Arg3750Pro) rs1327414405
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.1201+1G>A rs1596588978
NM_001009944.3(PKD1):c.12592_12619del (p.Ser4198fs) rs1567144266
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12721C>T (p.Gln4241Ter) rs2091391674
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter) rs1181168635
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3145_3156del (p.Val1049_Ala1052del) rs1567206560
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del) rs1567202750
NM_001009944.3(PKD1):c.7108T>C (p.Cys2370Arg) rs1567187445
NM_001009944.3(PKD1):c.7109G>C (p.Cys2370Ser) rs1567187434
NM_001009944.3(PKD1):c.7268C>T (p.Ser2423Phe) rs1555453207
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr) rs200360336

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