ClinVar Miner

List of variants reported as not provided for Polycystic kidney disease, adult type by Laboratory of Gastroenterology and Hepatology, Radboud University Medical Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His) rs724159825

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