ClinVar Miner

List of variants in gene PKD1 reported as not provided for Polycystic kidney disease, adult type

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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_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys) rs148812376 0.00032
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs) rs724159823
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del) rs724159824
NM_001009944.3(PKD1):c.13_25del (p.Ala5fs) rs1555462463
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu) rs724159822
NM_001009944.3(PKD1):c.9988dup (p.Ser3330fs) rs796053523

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