ClinVar Miner

List of variants in gene MVK studied for Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 547
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426 0.00024
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_000431.4(MVK):c.829C>T (p.Arg277Cys) rs104895321 0.00021
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000431.4(MVK):c.524A>G (p.Asn175Ser) rs138818135 0.00014
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903 0.00010
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
NM_000431.4(MVK):c.886-15A>T rs367853629 0.00006
NM_000431.4(MVK):c.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000431.4(MVK):c.1039+7C>T rs370291700 0.00004
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791 0.00004
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972 0.00004
NM_000431.4(MVK):c.442G>A (p.Ala148Thr) rs104895298 0.00004
NM_000431.4(MVK):c.449C>T (p.Ser150Leu) rs747116992 0.00004
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332 0.00004
NM_000431.4(MVK):c.681G>A (p.Ser227=) rs764412001 0.00004
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.864G>A (p.Pro288=) rs149708247 0.00004
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.372-9G>A rs1325994522 0.00003
NM_000431.4(MVK):c.60T>C (p.His20=) rs104895335 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.78+11G>A rs754766145 0.00003
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.999C>T (p.Gly333=) rs147904100 0.00003
NM_000431.4(MVK):c.1040-10C>T rs374344390 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00002
NM_000431.4(MVK):c.298G>A (p.Asp100Asn) rs751713601 0.00002
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00002
NM_000431.4(MVK):c.37A>T (p.Lys13Ter) rs104895307 0.00002
NM_000431.4(MVK):c.418G>A (p.Gly140Arg) rs781108404 0.00002
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.615T>C (p.Asn205=) rs201069079 0.00002
NM_000431.4(MVK):c.677+18C>T rs768375091 0.00002
NM_000431.4(MVK):c.747C>T (p.Gly249=) rs144788669 0.00002
NM_000431.4(MVK):c.748G>A (p.Val250Ile) rs104895339 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1040-4G>A rs748756524 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1125C>T (p.Pro375=) rs943435428 0.00001
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser) rs971159663 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr) rs1314369808 0.00001
NM_000431.4(MVK):c.1188C>T (p.Leu396=) rs1885924156 0.00001
NM_000431.4(MVK):c.118C>T (p.Arg40Trp) rs1055952433 0.00001
NM_000431.4(MVK):c.132C>T (p.His44=) rs916712126 0.00001
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.18A>G (p.Leu6=) rs1474470230 0.00001
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.19C>T (p.Leu7=) rs1166007579 0.00001
NM_000431.4(MVK):c.210G>T (p.Leu70=) rs199811011 0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=) rs758432894 0.00001
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412 0.00001
NM_000431.4(MVK):c.313G>A (p.Glu105Lys) rs1458440007 0.00001
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00001
NM_000431.4(MVK):c.371+12G>A rs1322575575 0.00001
NM_000431.4(MVK):c.371+14C>G rs1885142481 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.372-3C>T rs104895354 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.438C>T (p.Ser146=) rs777499296 0.00001
NM_000431.4(MVK):c.447C>G (p.Tyr149Ter) rs104895299 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) rs753599820 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 0.00001
NM_000431.4(MVK):c.58C>A (p.His20Asn) rs11544299 0.00001
NM_000431.4(MVK):c.592G>C (p.Gly198Arg) rs202172198 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.603C>T (p.Ser201=) rs775935897 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.614A>G (p.Asn205Ser) rs767853272 0.00001
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.631+3A>G rs1178525841 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000431.4(MVK):c.729C>G (p.Thr243=) rs755230199 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079 0.00001
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134 0.00001
NM_000431.4(MVK):c.886-2dup rs1332047942 0.00001
NM_000431.4(MVK):c.89C>T (p.Ala30Val) rs769000203 0.00001
NM_000431.4(MVK):c.921C>T (p.Ala307=) rs201799491 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991 0.00001
NC_000012.11:g.(?_110012646)_110013970del
NC_000012.11:g.(?_110013783)_(110013970_?)del
NC_000012.11:g.(?_110028556)_(110029182_?)del
NC_000012.11:g.(?_110032813)_(110034382_?)del
NC_000012.11:g.(?_110032813)_(110034402_?)del
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.1008T>C (p.Gly336=)
NM_000431.4(MVK):c.1014C>G (p.Gly338=)
NM_000431.4(MVK):c.1019G>A (p.Gly340Asp)
NM_000431.4(MVK):c.1019G>C (p.Gly340Ala)
NM_000431.4(MVK):c.1027C>T (p.Leu343Phe)
NM_000431.4(MVK):c.1029C>T (p.Leu343=)
NM_000431.4(MVK):c.1039+12G>A
NM_000431.4(MVK):c.1039+1G>C
NM_000431.4(MVK):c.1039+7dup
NM_000431.4(MVK):c.1039+8G>A
NM_000431.4(MVK):c.1039+8G>C rs765989100
NM_000431.4(MVK):c.1040-15C>T
NM_000431.4(MVK):c.1040-19C>T
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1040-6_1040-5inv
NM_000431.4(MVK):c.1042C>T (p.Leu348=)
NM_000431.4(MVK):c.1045G>C (p.Glu349Gln)
NM_000431.4(MVK):c.1046A>C (p.Glu349Ala)
NM_000431.4(MVK):c.1049A>C (p.Gln350Pro)
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala) rs879219256
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.1062G>A (p.Glu354=)
NM_000431.4(MVK):c.1063del (p.Ala355fs)
NM_000431.4(MVK):c.1066A>G (p.Thr356Ala)
NM_000431.4(MVK):c.1067C>A (p.Thr356Lys) rs104895342
NM_000431.4(MVK):c.1068G>A (p.Thr356=)
NM_000431.4(MVK):c.1071G>A (p.Lys357=)
NM_000431.4(MVK):c.1072C>T (p.Gln358Ter)
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro) rs1885916592
NM_000431.4(MVK):c.1075G>C (p.Ala359Pro)
NM_000431.4(MVK):c.1076C>A (p.Ala359Asp)
NM_000431.4(MVK):c.1078C>G (p.Leu360Val) rs2136257244
NM_000431.4(MVK):c.1078C>T (p.Leu360=)
NM_000431.4(MVK):c.1088G>A (p.Cys363Tyr)
NM_000431.4(MVK):c.1090_1091del (p.Gly364fs)
NM_000431.4(MVK):c.1092C>T (p.Gly364=)
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1096G>T (p.Asp366Tyr)
NM_000431.4(MVK):c.1098C>T (p.Asp366=)
NM_000431.4(MVK):c.1101C>T (p.Cys367=)
NM_000431.4(MVK):c.1102T>C (p.Leu368=)
NM_000431.4(MVK):c.1110C>T (p.Thr370=) rs2136257338
NM_000431.4(MVK):c.1113C>T (p.Ser371=)
NM_000431.4(MVK):c.1122C>T (p.Ala374=)
NM_000431.4(MVK):c.1124C>T (p.Pro375Leu)
NM_000431.4(MVK):c.1133C>G (p.Ser378Cys)
NM_000431.4(MVK):c.1135A>G (p.Ile379Val)
NM_000431.4(MVK):c.1137C>T (p.Ile379=)
NM_000431.4(MVK):c.1140C>T (p.His380=)
NM_000431.4(MVK):c.1142C>T (p.Ser381Leu)
NM_000431.4(MVK):c.1143A>C (p.Ser381=)
NM_000431.4(MVK):c.1143A>T (p.Ser381=)
NM_000431.4(MVK):c.1144del (p.Ala382fs)
NM_000431.4(MVK):c.1149C>T (p.Thr383=)
NM_000431.4(MVK):c.115C>T (p.Leu39Phe)
NM_000431.4(MVK):c.1161C>T (p.Ser387=)
NM_000431.4(MVK):c.1167C>T (p.Val389=)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val) rs1189179026
NM_000431.4(MVK):c.1176C>A (p.Ala392=)
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.1190G>A (p.Ter397=)
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.125A>C (p.Gln42Pro)
NM_000431.4(MVK):c.126A>G (p.Gln42=)
NM_000431.4(MVK):c.129C>A (p.Pro43=)
NM_000431.4(MVK):c.129_130del (p.His44fs) rs104895368
NM_000431.4(MVK):c.134_135delinsAA (p.Ser45Lys)
NM_000431.4(MVK):c.135C>T (p.Ser45=)
NM_000431.4(MVK):c.144A>G (p.Lys48=) rs2136218745
NM_000431.4(MVK):c.147G>A (p.Val49=)
NM_000431.4(MVK):c.153C>T (p.Leu51=)
NM_000431.4(MVK):c.15C>T (p.Val5=)
NM_000431.4(MVK):c.162C>T (p.Pro54=) rs2136218809
NM_000431.4(MVK):c.168T>C (p.Ile56=)
NM_000431.4(MVK):c.172A>G (p.Ile58Val)
NM_000431.4(MVK):c.179G>A (p.Arg60Gln)
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.187G>A (p.Asp63Asn) rs1884939365
NM_000431.4(MVK):c.192G>A (p.Val64=)
NM_000431.4(MVK):c.194C>G (p.Ala65Gly)
NM_000431.4(MVK):c.194C>T (p.Ala65Val)
NM_000431.4(MVK):c.1A>C (p.Met1Leu)
NM_000431.4(MVK):c.203A>G (p.Gln68Arg)
NM_000431.4(MVK):c.207A>G (p.Ser69=)
NM_000431.4(MVK):c.207_208del (p.Leu70fs)
NM_000431.4(MVK):c.226+17G>C
NM_000431.4(MVK):c.226+1del
NM_000431.4(MVK):c.226+7G>A rs781670680
NM_000431.4(MVK):c.226+7G>T
NM_000431.4(MVK):c.226+9A>G
NM_000431.4(MVK):c.227-10T>G
NM_000431.4(MVK):c.227-15T>C
NM_000431.4(MVK):c.227-17G>A
NM_000431.4(MVK):c.227-20C>A
NM_000431.4(MVK):c.227-7G>A
NM_000431.4(MVK):c.227-9G>A
NM_000431.4(MVK):c.230A>G (p.Gln77Arg)
NM_000431.4(MVK):c.240C>T (p.Val80=)
NM_000431.4(MVK):c.244A>G (p.Thr82Ala) rs2136224465
NM_000431.4(MVK):c.247C>T (p.Pro83Ser)
NM_000431.4(MVK):c.24G>A (p.Val8=)
NM_000431.4(MVK):c.250del (p.Thr84fs)
NM_000431.4(MVK):c.252C>A (p.Thr84=)
NM_000431.4(MVK):c.254C>T (p.Ser85Leu) rs1885131607
NM_000431.4(MVK):c.264G>C (p.Val88=)
NM_000431.4(MVK):c.274A>C (p.Lys92Gln)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.279G>A (p.Glu93=) rs2136224503
NM_000431.4(MVK):c.27T>C (p.Ser9=)
NM_000431.4(MVK):c.280G>A (p.Val94Ile)
NM_000431.4(MVK):c.288C>T (p.Gly96=) rs2136224524
NM_000431.4(MVK):c.289T>C (p.Leu97=)
NM_000431.4(MVK):c.291G>T (p.Leu97Phe)
NM_000431.4(MVK):c.294T>C (p.Pro98=) rs1566143735
NM_000431.4(MVK):c.300C>T (p.Asp100=)
NM_000431.4(MVK):c.307G>A (p.Val103Ile)
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.316C>T (p.Arg106Cys)
NM_000431.4(MVK):c.318C>G (p.Arg106=)
NM_000431.4(MVK):c.319C>T (p.Leu107=)
NM_000431.4(MVK):c.321G>C (p.Leu107=)
NM_000431.4(MVK):c.330G>A (p.Leu110=)
NM_000431.4(MVK):c.336T>C (p.Phe112=)
NM_000431.4(MVK):c.337del (p.Leu113fs)
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.340_344del (p.Tyr114fs) rs104895370
NM_000431.4(MVK):c.341A>G (p.Tyr114Cys)
NM_000431.4(MVK):c.342C>T (p.Tyr114=)
NM_000431.4(MVK):c.345A>G (p.Leu115=) rs2136224671
NM_000431.4(MVK):c.345dup (p.Tyr116fs)
NM_000431.4(MVK):c.349C>G (p.Leu117Val) rs374204972
NM_000431.4(MVK):c.350T>C (p.Leu117Pro)
NM_000431.4(MVK):c.366G>A (p.Lys122=)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu) rs978964462
NM_000431.4(MVK):c.36G>T (p.Gly12=) rs1884860868
NM_000431.4(MVK):c.371+19G>C
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+20A>T
NM_000431.4(MVK):c.371+20_371+22del
NM_000431.4(MVK):c.371+4T>C rs1885141606
NM_000431.4(MVK):c.371+8C>A rs67886029
NM_000431.4(MVK):c.372-12G>C
NM_000431.4(MVK):c.372-14C>T
NM_000431.4(MVK):c.372-15C>T
NM_000431.4(MVK):c.372-16C>A
NM_000431.4(MVK):c.372-16C>G
NM_000431.4(MVK):c.372-18C>T
NM_000431.4(MVK):c.372-8T>C
NM_000431.4(MVK):c.372G>A (p.Arg124=)
NM_000431.4(MVK):c.378G>A (p.Leu126=)
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.381_385del (p.Ser128fs)
NM_000431.4(MVK):c.384C>T (p.Ser128=)
NM_000431.4(MVK):c.386_422del (p.Leu129fs)
NM_000431.4(MVK):c.387G>A (p.Leu129=)
NM_000431.4(MVK):c.388G>A (p.Asp130Asn)
NM_000431.4(MVK):c.393C>T (p.Ile131=) rs762282184
NM_000431.4(MVK):c.395del (p.Val132fs)
NM_000431.4(MVK):c.398T>G (p.Val133Gly)
NM_000431.4(MVK):c.3G>A (p.Met1Ile)
NM_000431.4(MVK):c.415C>G (p.Pro139Ala)
NM_000431.4(MVK):c.417C>A (p.Pro139=)
NM_000431.4(MVK):c.417C>G (p.Pro139=) rs754441368
NM_000431.4(MVK):c.417C>T (p.Pro139=)
NM_000431.4(MVK):c.417del (p.Ala141fs)
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.419G>T (p.Gly140Val)
NM_000431.4(MVK):c.420G>A (p.Gly140=) rs2136227153
NM_000431.4(MVK):c.423G>C (p.Ala141=)
NM_000431.4(MVK):c.426C>A (p.Gly142=)
NM_000431.4(MVK):c.42C>T (p.Val14=)
NM_000431.4(MVK):c.435C>T (p.Ser145=)
NM_000431.4(MVK):c.439G>A (p.Ala147Thr) rs104895363
NM_000431.4(MVK):c.441C>A (p.Ala147=) rs138342076
NM_000431.4(MVK):c.450G>A (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000431.4(MVK):c.450G>T (p.Ser150=)
NM_000431.4(MVK):c.451G>T (p.Val151Leu) rs1885215026
NM_000431.4(MVK):c.453G>T (p.Val151=)
NM_000431.4(MVK):c.457C>T (p.Leu153=)
NM_000431.4(MVK):c.458T>C (p.Leu153Pro)
NM_000431.4(MVK):c.459G>A (p.Leu153=)
NM_000431.4(MVK):c.46_49del (p.Leu16fs)
NM_000431.4(MVK):c.477T>A (p.Thr159=)
NM_000431.4(MVK):c.479T>A (p.Val160Glu)
NM_000431.4(MVK):c.481_482del (p.Cys161fs)
NM_000431.4(MVK):c.486G>A (p.Glu162=)
NM_000431.4(MVK):c.491T>A (p.Ile164Asn)
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>A (p.Pro167Gln)
NM_000431.4(MVK):c.501G>A (p.Pro167=)
NM_000431.4(MVK):c.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.507G>A (p.Lys169=)
NM_000431.4(MVK):c.513G>A (p.Gly171=)
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.520G>A (p.Val174Ile) rs369227329
NM_000431.4(MVK):c.520G>T (p.Val174Phe)
NM_000431.4(MVK):c.527+11T>A
NM_000431.4(MVK):c.527+17C>G
NM_000431.4(MVK):c.527+17C>T
NM_000431.4(MVK):c.527+20G>A
NM_000431.4(MVK):c.527+7A>G
NM_000431.4(MVK):c.527+9G>A rs1593017698
NM_000431.4(MVK):c.528-10G>T
NM_000431.4(MVK):c.528-10_528-7del
NM_000431.4(MVK):c.528-14A>G
NM_000431.4(MVK):c.528-15C>T rs895927591
NM_000431.4(MVK):c.528-17A>G rs1885416136
NM_000431.4(MVK):c.528-18G>A rs1885416038
NM_000431.4(MVK):c.528-3C>T
NM_000431.4(MVK):c.528-7T>C
NM_000431.4(MVK):c.534C>A (p.Thr178=)
NM_000431.4(MVK):c.534C>G (p.Thr178=) rs749860412
NM_000431.4(MVK):c.545T>A (p.Leu182Ter) rs1566147222
NM_000431.4(MVK):c.549G>A (p.Glu183=)
NM_000431.4(MVK):c.558C>T (p.Asn186=)
NM_000431.4(MVK):c.560_561del (p.Lys187fs)
NM_000431.4(MVK):c.562T>G (p.Trp188Gly)
NM_000431.4(MVK):c.573A>G (p.Gln191=)
NM_000431.4(MVK):c.577G>A (p.Glu193Lys)
NM_000431.4(MVK):c.581G>T (p.Arg194Ile)
NM_000431.4(MVK):c.592G>A (p.Gly198Arg) rs202172198
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.600C>T (p.Pro200=)
NM_000431.4(MVK):c.605dup (p.Val203fs) rs2136236945
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.621C>A (p.Val207=)
NM_000431.4(MVK):c.621C>T (p.Val207=)
NM_000431.4(MVK):c.621_630del (p.Ser208fs)
NM_000431.4(MVK):c.626C>T (p.Thr209Ile)
NM_000431.4(MVK):c.629G>A (p.Trp210Ter)
NM_000431.4(MVK):c.631+14C>T
NM_000431.4(MVK):c.631+16G>A
NM_000431.4(MVK):c.631+3A>T
NM_000431.4(MVK):c.631+4G>A
NM_000431.4(MVK):c.632-11T>C
NM_000431.4(MVK):c.632-12T>G rs1885451097
NM_000431.4(MVK):c.632-13T>C
NM_000431.4(MVK):c.632-14G>A
NM_000431.4(MVK):c.632-18A>T
NM_000431.4(MVK):c.632-19_632-18inv
NM_000431.4(MVK):c.632-2A>C
NM_000431.4(MVK):c.632-3T>A rs2136238080
NM_000431.4(MVK):c.632-3del rs1885451714
NM_000431.4(MVK):c.632-6C>T
NM_000431.4(MVK):c.632-8C>T
NM_000431.4(MVK):c.632-9T>C
NM_000431.4(MVK):c.63C>T (p.Ala21=)
NM_000431.4(MVK):c.641T>A (p.Leu214His)
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.64G>C (p.Val22Leu) rs1217259118
NM_000431.4(MVK):c.651T>C (p.His217=)
NM_000431.4(MVK):c.653A>C (p.Gln218Pro) rs2136238122
NM_000431.4(MVK):c.659A>C (p.Lys220Thr)
NM_000431.4(MVK):c.661_668dup (p.Leu224fs)
NM_000431.4(MVK):c.662T>C (p.Ile221Thr)
NM_000431.4(MVK):c.664del (p.Ser222fs)
NM_000431.4(MVK):c.665C>A (p.Ser222Ter)
NM_000431.4(MVK):c.666A>G (p.Ser222=)
NM_000431.4(MVK):c.669C>T (p.Ser223=)
NM_000431.4(MVK):c.670T>C (p.Leu224=)
NM_000431.4(MVK):c.671T>G (p.Leu224Ter)
NM_000431.4(MVK):c.672A>G (p.Leu224=)
NM_000431.4(MVK):c.677+11G>A
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.677+12G>T rs539146613
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.677+13T>G
NM_000431.4(MVK):c.677+15G>A
NM_000431.4(MVK):c.677+19A>C
NM_000431.4(MVK):c.677+1G>A
NM_000431.4(MVK):c.677+1G>T
NM_000431.4(MVK):c.677+5C>A
NM_000431.4(MVK):c.677+7del rs2136238231
NM_000431.4(MVK):c.677+8G>T
NM_000431.4(MVK):c.677+9G>A
NM_000431.4(MVK):c.677+9G>T
NM_000431.4(MVK):c.677G>A (p.Arg226Lys)
NM_000431.4(MVK):c.678-15_678-13del
NM_000431.4(MVK):c.678-16C>G rs368844823
NM_000431.4(MVK):c.678-16C>T
NM_000431.4(MVK):c.678-3C>A rs1885632836
NM_000431.4(MVK):c.678-4G>A
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.678G>A (p.Arg226=)
NM_000431.4(MVK):c.67G>A (p.Val23Ile) rs2136216776
NM_000431.4(MVK):c.680C>G (p.Ser227Trp)
NM_000431.4(MVK):c.686C>T (p.Ala229Val)
NM_000431.4(MVK):c.690C>G (p.Leu230=)
NM_000431.4(MVK):c.699G>A (p.Leu233=)
NM_000431.4(MVK):c.6G>C (p.Leu2Phe)
NM_000431.4(MVK):c.705C>T (p.Thr235=)
NM_000431.4(MVK):c.706A>G (p.Asn236Asp)
NM_000431.4(MVK):c.709A>G (p.Thr237Ala)
NM_000431.4(MVK):c.712A>T (p.Lys238Ter)
NM_000431.4(MVK):c.717C>T (p.Val239=)
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.71A>C (p.His24Pro)
NM_000431.4(MVK):c.723C>T (p.Arg241=)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp) rs1885636019
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000431.4(MVK):c.738T>A (p.Leu246=)
NM_000431.4(MVK):c.747C>A (p.Gly249=) rs144788669
NM_000431.4(MVK):c.748G>T (p.Val250Phe)
NM_000431.4(MVK):c.752G>A (p.Arg251Lys) rs1885638229
NM_000431.4(MVK):c.762G>A (p.Leu254=)
NM_000431.4(MVK):c.768+14C>G
NM_000431.4(MVK):c.768+18C>T
NM_000431.4(MVK):c.768+1G>T
NM_000431.4(MVK):c.769-10T>C
NM_000431.4(MVK):c.769-14_769-12del
NM_000431.4(MVK):c.769-18C>T
NM_000431.4(MVK):c.769-5T>A
NM_000431.4(MVK):c.769-5T>C
NM_000431.4(MVK):c.769-6dup
NM_000431.4(MVK):c.769-7T>C
NM_000431.4(MVK):c.775G>A (p.Glu259Lys) rs1885663402
NM_000431.4(MVK):c.778A>T (p.Ile260Phe)
NM_000431.4(MVK):c.78+10C>A
NM_000431.4(MVK):c.78+10C>T
NM_000431.4(MVK):c.78+11G>T
NM_000431.4(MVK):c.78+18C>T
NM_000431.4(MVK):c.78+19C>G
NM_000431.4(MVK):c.78+1G>A rs1884864809
NM_000431.4(MVK):c.78+1G>T
NM_000431.4(MVK):c.78+20T>C
NM_000431.4(MVK):c.78+20T>G
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.780C>T (p.Ile260=) rs34975996
NM_000431.4(MVK):c.781G>A (p.Val261Met)
NM_000431.4(MVK):c.783G>A (p.Val261=)
NM_000431.4(MVK):c.784G>T (p.Ala262Ser) rs1386402188
NM_000431.4(MVK):c.789C>A (p.Pro263=) rs146181903
NM_000431.4(MVK):c.789C>T (p.Pro263=)
NM_000431.4(MVK):c.79-11T>G
NM_000431.4(MVK):c.79-16G>A
NM_000431.4(MVK):c.79-2A>G rs1884932883
NM_000431.4(MVK):c.79-4A>G
NM_000431.4(MVK):c.790C>G (p.Leu264Val)
NM_000431.4(MVK):c.790del (p.Leu264fs)
NM_000431.4(MVK):c.790dup (p.Leu264fs)
NM_000431.4(MVK):c.795G>A (p.Leu265=)
NM_000431.4(MVK):c.799T>C (p.Ser267Pro) rs1885666876
NM_000431.4(MVK):c.805G>A (p.Asp269Asn)
NM_000431.4(MVK):c.807T>C (p.Asp269=)
NM_000431.4(MVK):c.809C>A (p.Ala270Asp) rs866006959
NM_000431.4(MVK):c.80T>G (p.Val27Gly) rs770136482
NM_000431.4(MVK):c.815C>T (p.Ser272Phe) rs104895318
NM_000431.4(MVK):c.824G>A (p.Cys275Tyr)
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.832G>C (p.Val278Leu)
NM_000431.4(MVK):c.835C>T (p.Leu279=)
NM_000431.4(MVK):c.843G>T (p.Glu281Asp) rs758317084
NM_000431.4(MVK):c.846G>A (p.Met282Ile)
NM_000431.4(MVK):c.848G>C (p.Gly283Ala)
NM_000431.4(MVK):c.84A>G (p.Ala28=)
NM_000431.4(MVK):c.861C>A (p.Ala287=) rs774340599
NM_000431.4(MVK):c.865G>C (p.Glu289Gln) rs1406107674
NM_000431.4(MVK):c.86T>C (p.Leu29Pro)
NM_000431.4(MVK):c.870G>A (p.Gln290=)
NM_000431.4(MVK):c.877G>T (p.Val293Leu)
NM_000431.4(MVK):c.885+15G>A
NM_000431.4(MVK):c.885+2dup
NM_000431.4(MVK):c.885+8C>T
NM_000431.4(MVK):c.886-11T>A
NM_000431.4(MVK):c.886-12C>T
NM_000431.4(MVK):c.886-19A>G
NM_000431.4(MVK):c.886-19A>T rs745941736
NM_000431.4(MVK):c.886-22_886-20del
NM_000431.4(MVK):c.886-7C>T
NM_000431.4(MVK):c.888G>A (p.Glu296=) rs2136253284
NM_000431.4(MVK):c.893T>C (p.Ile298Thr)
NM_000431.4(MVK):c.898A>G (p.Met300Val)
NM_000431.4(MVK):c.901A>C (p.Asn301His)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.90T>C (p.Ala30=)
NM_000431.4(MVK):c.924C>A (p.Leu308=)
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.938C>A (p.Ala313Asp)
NM_000431.4(MVK):c.938C>T (p.Ala313Val)
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249
NM_000431.4(MVK):c.951G>A (p.Gln317=)
NM_000431.4(MVK):c.952C>A (p.Leu318Ile)
NM_000431.4(MVK):c.96C>T (p.Ser32=)
NM_000431.4(MVK):c.973C>T (p.Arg325Cys)
NM_000431.4(MVK):c.976G>A (p.Gly326Arg) rs104895308
NM_000431.4(MVK):c.976G>T (p.Gly326Ter)
NM_000431.4(MVK):c.986G>A (p.Ser329Asn) rs104895350
NM_000431.4(MVK):c.987C>G (p.Ser329Arg) rs104895326
NM_000431.4(MVK):c.998G>A (p.Gly333Asp)
NM_000431.4(MVK):c.9A>G (p.Ser3=)

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