ClinVar Miner

List of variants reported as pathogenic for Hypoplastic left heart syndrome 1

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)	rs104893965	0.00019
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)	rs2227885	0.00013
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)

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