ClinVar Miner

List of variants reported as benign for Hypoplastic left heart syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04876
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00346
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675 0.00236
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099 0.00070
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr)

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