ClinVar Miner

List of variants reported as likely pathogenic for Polycystic liver disease 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001289104.2(PRKCSH):c.762+2T>C rs112915100 0.00008
NM_001289104.2(PRKCSH):c.300C>A (p.Cys100Ter) rs756238324
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) rs749223361
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651
NM_001289104.2(PRKCSH):c.805_845del (p.Tyr269fs)

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