ClinVar Miner

List of variants reported as likely pathogenic for Hypoplastic left heart syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)	rs202235419
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)	rs1843262329
NM_017617.5(NOTCH1):c.2741-1G>A	rs1843152606

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