ClinVar Miner

List of variants reported as benign for Deficiency of hydroxymethylglutaryl-CoA lyase by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.48G>A (p.Ala16=)	rs115611440	0.00769
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00005

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