ClinVar Miner

List of variants in gene MVK reported as pathogenic

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Total variants: 37
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HGVS dbSNP
NC_000012.11:g.(?_110032813)_(110034402_?)del
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) rs104895373
NM_000431.3(MVK):c.421dupG (p.Ala141Glyfs) rs104895323
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) rs104895322
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317
NM_000431.4(MVK):c.1039+1G>A rs104895362
NM_000431.4(MVK):c.1039+2T>C rs398122910
NM_000431.4(MVK):c.1094T>C (p.Phe365Ser) rs398122911
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.122T>C (p.Leu41Pro) rs397514571
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.16_34del (p.Leu6fs) rs104895334
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
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.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.605dup (p.Val203fs)
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) rs1593021917
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.764T>C (p.Leu255Pro) rs397514570
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.902A>C (p.Asn301Thr) rs121917789
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319

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