ClinVar Miner

List of variants studied for Deficiency of hydroxymethylglutaryl-CoA lyase by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu) rs121964996 0.00003
NG_013061.1:g.(9952_12876)_(19725_22136)del
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys) rs121964998
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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