List of variants in gene MVK reported as pathogenic for Mevalonic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)	rs104895304	0.00018
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr)	rs104895317	0.00006
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)	rs775474803	0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro)	rs104895295	0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301	0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs)	rs104895322	0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met)	rs104895319	0.00001
NM_000431.4(MVK):c.16_34del (p.Leu6fs)	rs104895334
NM_000431.4(MVK):c.417dup (p.Gly140fs)	rs104895373
NM_000431.4(MVK):c.902A>C (p.Asn301Thr)	rs121917789
NM_000431.4(MVK):c.943_944del (p.Leu315fs)	rs776735249

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