ClinVar Miner

List of variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	rs764039230	0.00002
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	rs1212444447	0.00001
NM_000191.3(HMGCL):c.230del (p.Val77fs)	rs1638632303
NM_000191.3(HMGCL):c.253-2A>G	rs2521455723

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