ClinVar Miner

List of variants in gene MVK reported by GeneDx

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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.79-164T>G rs6606734 0.55050
NM_000431.4(MVK):c.1039+284G>C rs10850435 0.49794
NM_000431.4(MVK):c.226+105C>T rs3752662 0.32384
NM_000431.4(MVK):c.-14-104C>G rs66616264 0.31286
NM_000431.4(MVK):c.-14-147G>T rs3759387 0.31278
NM_000431.4(MVK):c.372-302C>T rs61940514 0.17186
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.528-138G>A rs11615637 0.17093
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_000431.4(MVK):c.1039+196C>T rs3742014 0.15986
NM_000431.4(MVK):c.78+61A>G rs61940512 0.13119
NM_000431.4(MVK):c.528-155G>A rs7311653 0.12963
NM_000431.4(MVK):c.885+24G>A rs2270374 0.12332
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.678-243A>G rs59573160 0.05451
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.78+265A>G rs79362696 0.01533
NM_000431.4(MVK):c.226+180A>G rs60942603 0.01514
NM_000431.4(MVK):c.768+86G>C rs78710155 0.01513
NM_000431.4(MVK):c.226+106G>A rs78185249 0.01267
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.371+313_371+314insCC rs72647002 0.00901
NM_000431.4(MVK):c.886-293G>T rs12318538 0.00853
NC_000012.12:g.109573681T>A rs66647925 0.00820
NM_000431.4(MVK):c.886-172T>C rs72648041 0.00701
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.78+177G>A rs104895343 0.00328
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.528-100A>G rs561919722 0.00289
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.-15+11G>A rs192335177 0.00207
NM_000431.4(MVK):c.*76G>T rs188368642 0.00190
NM_000431.4(MVK):c.768+101T>G rs151204972 0.00189
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.527+53C>T rs561134590 0.00153
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+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.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000431.4(MVK):c.769-181G>A rs761596195 0.00015
NM_000431.4(MVK):c.227-40C>G rs377329101 0.00011
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.885+92G>A rs757827951 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.346T>C (p.Tyr116His) rs104895382 0.00007
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000431.4(MVK):c.32C>T (p.Pro11Leu) rs876661001 0.00006
NM_000431.4(MVK):c.-29C>T rs534090085 0.00005
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342 0.00005
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.608T>C (p.Val203Ala) rs104895332 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.874C>T (p.Leu292Phe) rs145586352 0.00004
NM_000431.4(MVK):c.1040-91G>A rs940693113 0.00003
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00003
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079 0.00003
NM_000431.4(MVK):c.-14-8C>T rs756448647 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.*168C>T rs907740769 0.00001
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.197G>A (p.Arg66Lys) rs757565098 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 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.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.78+105A>G rs1884872092 0.00001
NM_000431.4(MVK):c.78G>A (p.Lys26=) rs764748327 0.00001
NM_000431.4(MVK):c.819G>A (p.Leu273=) rs876661134 0.00001
NM_000431.4(MVK):c.885+51A>C rs751555285 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000431.4(MVK):c.*183C>T rs2136258583
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.-15+61G>A rs2136214994
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.226+8C>T rs1199891524
NM_000431.4(MVK):c.227-18T>C rs876661049
NM_000431.4(MVK):c.249del (p.Thr84fs)
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.498C>A (p.Asn166Lys) rs765975337
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.528-18G>A rs1885416038
NM_000431.4(MVK):c.528-226C>T rs141842576
NM_000431.4(MVK):c.528-254dup rs3837524
NM_000431.4(MVK):c.643C>T (p.Arg215Ter) rs758026399
NM_000431.4(MVK):c.677+103T>C rs2136238367
NM_000431.4(MVK):c.678-38T>C rs2136244721
NM_000431.4(MVK):c.678-7C>A rs2136244808
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.768+117C>A rs2136245374
NM_000431.4(MVK):c.768+12T>G rs2136245172
NM_000431.4(MVK):c.768+182T>A rs2136245467
NM_000431.4(MVK):c.768+24C>T rs1487498518
NM_000431.4(MVK):c.78+141G>A rs576356502
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.789C>A (p.Pro263=) rs146181903
NM_000431.4(MVK):c.79-176G>A rs11834517
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.885+117C>A rs72648031
NM_000431.4(MVK):c.885+148C>T rs2136246617
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933

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