ClinVar Miner

List of variants reported for Hypoplastic left heart syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063 0.00023
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005

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