ClinVar Miner

List of variants in gene MVK reported as pathogenic by OMIM

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Gene type:
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Total variants: 18
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HGVS dbSNP
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.122T>C (p.Leu41Pro) rs397514571
NM_000431.4(MVK):c.16_34del (p.Leu6fs) rs104895334
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.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.764T>C (p.Leu255Pro) rs397514570
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.902A>C (p.Asn301Thr) rs121917789
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319

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