ClinVar Miner

List of variants reported for Polycystic kidney disease, adult type by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter) rs764447736 0.00003
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro) rs2092400099
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg) rs1367567191
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524

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