ClinVar Miner

List of variants reported as likely pathogenic by Division of Medical Genetics, University of Washington

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_001048174.2(MUTYH):c.420+2T>C rs587782730
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008

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