ClinVar Miner

List of variants in gene MVK reported by GeneDx

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Gene type:
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Total variants: 44
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HGVS dbSNP
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) rs104895373
NM_000431.4(MVK):c.-14-17T>C rs186232847
NM_000431.4(MVK):c.-14-8C>T rs756448647
NM_000431.4(MVK):c.-15+11G>A rs192335177
NM_000431.4(MVK):c.-15+16C>T rs758229545
NM_000431.4(MVK):c.-29C>T rs534090085
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357
NM_000431.4(MVK):c.1039+284G>C rs10850435
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.226+4A>G rs145732290
NM_000431.4(MVK):c.227-18T>C rs876661049
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.371+313_371+314insCC rs72647002
NM_000431.4(MVK):c.372-302C>T rs61940514
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298
NM_000431.4(MVK):c.498C>A (p.Asn166Lys) rs765975337
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.78+7_78+10del rs771523264
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490

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