ClinVar Miner

List of variants studied for Mevalonic aciduria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001

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