ClinVar Miner

List of variants in gene MVK studied for not provided

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Gene type:
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Total variants: 63
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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.1039+284G>C rs10850435
NM_000431.4(MVK):c.1074G>A (p.Gln358=) rs1566153756
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.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.151C>T (p.Leu51Phe) rs892779197
NM_000431.4(MVK):c.155G>T (p.Ser52Ile)
NM_000431.4(MVK):c.227-18T>C rs876661049
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.287G>T (p.Gly96Val) rs1337856151
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
NM_000431.4(MVK):c.29C>T (p.Ala10Val)
NM_000431.4(MVK):c.327G>A (p.Val109=) rs1593015594
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.349C>T (p.Leu117=) rs374204972
NM_000431.4(MVK):c.349_350del (p.Leu117fs) rs1593015642
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.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.527+9G>A rs1593017698
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.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) rs1555278380
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439
NM_000431.4(MVK):c.787C>T (p.Pro263Ser)
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.837G>A (p.Leu279=) rs374187676
NM_000431.4(MVK):c.850del (p.Glu284fs)
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.927C>T (p.Gly309=)
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620

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