ClinVar Miner

List of variants in gene MVK reported by Invitae

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NC_000012.11:g.(?_110012646_110013970del
NC_000012.11:g.(?_110032813)_(110034402_?)del
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs) rs104895322
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357
NM_000431.4(MVK):c.1039+7C>T rs370291700
NM_000431.4(MVK):c.1039+8G>C rs765989100
NM_000431.4(MVK):c.1040-10C>T
NM_000431.4(MVK):c.1040-4G>A
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala)
NM_000431.4(MVK):c.1059G>A (p.Val353=)
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro)
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser)
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
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.1156G>A (p.Asp386Asn) rs104895380
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val)
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.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.144A>G (p.Lys48=)
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003
NM_000431.4(MVK):c.187G>A (p.Asp63Asn)
NM_000431.4(MVK):c.19C>T (p.Leu7=)
NM_000431.4(MVK):c.226+4A>G rs145732290
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.244A>G (p.Thr82Ala)
NM_000431.4(MVK):c.254C>T (p.Ser85Leu)
NM_000431.4(MVK):c.258G>A (p.Glu86=)
NM_000431.4(MVK):c.294T>C (p.Pro98=) rs1566143735
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
NM_000431.4(MVK):c.327G>A (p.Val109=) rs1593015594
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382
NM_000431.4(MVK):c.349C>G (p.Leu117Val)
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972
NM_000431.4(MVK):c.361C>T (p.Arg121Trp)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu)
NM_000431.4(MVK):c.36G>T (p.Gly12=)
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+4T>C
NM_000431.4(MVK):c.371+8C>T rs67886029
NM_000431.4(MVK):c.371+9G>A rs551460898
NM_000431.4(MVK):c.372-9G>A
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.393C>T (p.Ile131=)
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.420G>A (p.Gly140=)
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.449C>T (p.Ser150Leu)
NM_000431.4(MVK):c.450G>C (p.Ser150=)
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)
NM_000431.4(MVK):c.520G>A (p.Val174Ile)
NM_000431.4(MVK):c.524A>G (p.Asn175Ser)
NM_000431.4(MVK):c.527+10G>A rs368909134
NM_000431.4(MVK):c.527+8T>C rs377547988
NM_000431.4(MVK):c.527+9G>A rs1593017698
NM_000431.4(MVK):c.534C>G (p.Thr178=)
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.565G>T (p.Ala189Ser)
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329
NM_000431.4(MVK):c.592G>A (p.Gly198Arg)
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.605dup (p.Val203fs)
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.60T>C (p.His20=)
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426
NM_000431.4(MVK):c.631+3A>G
NM_000431.4(MVK):c.632-18A>G rs2270375
NM_000431.4(MVK):c.632-3del
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.653A>C (p.Gln218Pro)
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914
NM_000431.4(MVK):c.677+7del
NM_000431.4(MVK):c.678-3C>A
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.681G>A (p.Ser227=)
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.722G>A (p.Arg241His)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp)
NM_000431.4(MVK):c.729C>G (p.Thr243=)
NM_000431.4(MVK):c.747C>A (p.Gly249=)
NM_000431.4(MVK):c.747C>T (p.Gly249=)
NM_000431.4(MVK):c.752G>A (p.Arg251Lys)
NM_000431.4(MVK):c.755A>G (p.Asn252Ser)
NM_000431.4(MVK):c.769-38C>T rs35191208
NM_000431.4(MVK):c.769-7T>G rs104895331
NM_000431.4(MVK):c.775G>A (p.Glu259Lys)
NM_000431.4(MVK):c.78+1G>A
NM_000431.4(MVK):c.78+7_78+10del rs771523264
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.780C>T (p.Ile260=)
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439
NM_000431.4(MVK):c.789C>A (p.Pro263=)
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903
NM_000431.4(MVK):c.79-2A>G
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315
NM_000431.4(MVK):c.799T>C (p.Ser267Pro)
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.80T>G (p.Val27Gly)
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.4(MVK):c.837G>A (p.Leu279=) rs374187676
NM_000431.4(MVK):c.855C>T (p.Ala285=)
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355
NM_000431.4(MVK):c.864G>A (p.Pro288=) rs149708247
NM_000431.4(MVK):c.870G>T (p.Gln290His)
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356
NM_000431.4(MVK):c.889C>A (p.Leu297Ile)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.921C>T (p.Ala307=)
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620
NM_000431.4(MVK):c.987C>G (p.Ser329Arg)

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