ClinVar Miner

List of variants reported as likely pathogenic for Hypoplastic left heart syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
46;XY;inv(10)(q21.2q22.3)pat
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp) rs2502193523
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
NM_017617.5(NOTCH1):c.5385-1G>A rs1843006535

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