ClinVar Miner

List of variants reported as benign for 3-hydroxy-3-methylglutaric aciduria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.654A>G (p.Leu218=) rs719400 0.92712
NM_000191.3(HMGCL):c.*486G>A rs11714 0.91585
NM_000191.3(HMGCL):c.48G>A (p.Ala16=) rs115611440 0.00769
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043

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