ClinVar Miner

List of variants in gene MVK reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 29
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HGVS dbSNP
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.151C>T (p.Leu51Phe) rs892779197
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.371+13T>C rs201201471
NM_000431.4(MVK):c.371+8C>T rs67886029
NM_000431.4(MVK):c.371+9G>A rs551460898
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.413C>T (p.Pro138Leu)
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221
NM_000431.4(MVK):c.632-18A>G rs2270375
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.769-38C>T rs35191208
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000431.4(MVK):c.78+61A>G rs61940512
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.79-164T>G rs6606734
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.885+24G>A rs2270374
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559

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