ClinVar Miner

List of variants in gene MVK reported as pathogenic by Invitae

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Gene type:
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Total variants: 21
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HGVS dbSNP
NC_000012.11:g.(?_110032813)_(110034402_?)del
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) rs104895322
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317
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.1162C>T (p.Arg388Ter) rs104895360
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.605dup (p.Val203fs)
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319

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