ClinVar Miner

List of variants in gene HMGCL reported as benign for 3-hydroxy-3-methylglutaric aciduria

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000191.2(HMGCL):c.393A>G (p.Ser131=) rs56218308
NM_000191.2(HMGCL):c.48G>A (p.Ala16=) rs115611440
NM_000191.2(HMGCL):c.654A>G (p.Leu218=) rs719400

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