ClinVar Miner

List of variants in gene GJA1 reported as benign for Hypoplastic left heart syndrome 1

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_000165.5(GJA1):c.*1733C>T rs78394273 0.00282
NM_000165.5(GJA1):c.*773dup rs397698276

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