ClinVar Miner

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

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) rs1842918022

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