ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.*412C>T rs192656516 0.00852
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.-15+11G>A rs192335177 0.00207
NM_000431.4(MVK):c.*660G>A rs142493947 0.00072
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996

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