ClinVar Miner

List of variants in gene MYLK reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143 0.00053
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_053025.4(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933 0.00035
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_053025.4(MYLK):c.2662C>T (p.Arg888Cys) rs147332242 0.00018
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) rs200949109 0.00014
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_053025.4(MYLK):c.506G>A (p.Arg169Gln) rs758521431 0.00012
NM_053025.4(MYLK):c.-4G>A rs989215521 0.00011
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys) rs368321325 0.00009
NM_053025.4(MYLK):c.1693G>A (p.Val565Met) rs370052625 0.00008
NM_053025.4(MYLK):c.2462+5G>A rs374003770 0.00008
NM_053025.4(MYLK):c.5369-10T>G rs373584324 0.00008
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543 0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759 0.00007
NM_053025.4(MYLK):c.149C>T (p.Ala50Val) rs369576521 0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) rs766027720 0.00006
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) rs750686734 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083 0.00006
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) rs776975714 0.00006
NM_053025.4(MYLK):c.454C>T (p.Arg152Cys) rs559933360 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_053025.4(MYLK):c.474G>T (p.Glu158Asp) rs370158852 0.00006
NM_053025.4(MYLK):c.2114G>A (p.Arg705His) rs189505310 0.00005
NM_053025.4(MYLK):c.3076G>A (p.Val1026Met) rs778578954 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_053025.4(MYLK):c.569C>T (p.Pro190Leu) rs199736263 0.00005
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met) rs200490629 0.00005
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.1254C>G (p.Ser418Arg) rs377193216 0.00004
NM_053025.4(MYLK):c.1375G>A (p.Gly459Ser) rs147311651 0.00004
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) rs375501508 0.00004
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438 0.00004
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) rs531232445 0.00004
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu) rs779148876 0.00004
NM_053025.4(MYLK):c.2792G>A (p.Arg931Gln) rs371418382 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.3248G>A (p.Gly1083Glu) rs762030142 0.00004
NM_053025.4(MYLK):c.3281A>T (p.Gln1094Leu) rs530737723 0.00004
NM_053025.4(MYLK):c.4031G>A (p.Arg1344Gln) rs774223564 0.00004
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) rs375433770 0.00004
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214 0.00004
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) rs568039936 0.00004
NM_053025.4(MYLK):c.1075C>A (p.Pro359Thr) rs202225055 0.00003
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237 0.00003
NM_053025.4(MYLK):c.1724C>T (p.Pro575Leu) rs761639849 0.00003
NM_053025.4(MYLK):c.1957G>A (p.Glu653Lys) rs142765858 0.00003
NM_053025.4(MYLK):c.2626C>T (p.Arg876Cys) rs369503342 0.00003
NM_053025.4(MYLK):c.2701C>G (p.Leu901Val) rs765778763 0.00003
NM_053025.4(MYLK):c.3133G>A (p.Glu1045Lys) rs773540567 0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535 0.00003
NM_053025.4(MYLK):c.3463G>A (p.Val1155Ile) rs201251944 0.00003
NM_053025.4(MYLK):c.3659C>T (p.Ala1220Val) rs370872760 0.00003
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) rs758161864 0.00003
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545 0.00003
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) rs757392371 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698 0.00003
NM_053025.4(MYLK):c.661C>T (p.His221Tyr) rs760622096 0.00003
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) rs886057865 0.00003
NM_053025.4(MYLK):c.1517-2A>G rs770709606 0.00002
NM_053025.4(MYLK):c.15G>T (p.Lys5Asn) rs777696799 0.00002
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023 0.00002
NM_053025.4(MYLK):c.2009A>T (p.His670Leu) rs1057524740 0.00002
NM_053025.4(MYLK):c.2254G>A (p.Val752Met) rs144740858 0.00002
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) rs587782966 0.00002
NM_053025.4(MYLK):c.3127C>G (p.Pro1043Ala) rs777200220 0.00002
NM_053025.4(MYLK):c.3403G>A (p.Gly1135Arg) rs777923531 0.00002
NM_053025.4(MYLK):c.3566A>G (p.Asp1189Gly) rs762850441 0.00002
NM_053025.4(MYLK):c.3577A>C (p.Ser1193Arg) rs759317891 0.00002
NM_053025.4(MYLK):c.3615G>T (p.Arg1205Ser) rs1026157995 0.00002
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) rs755248772 0.00002
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) rs2059054614 0.00002
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu) rs747368032 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) rs1431655501 0.00002
NM_053025.4(MYLK):c.1369C>G (p.Gln457Glu) rs2062541379 0.00001
NM_053025.4(MYLK):c.1408C>T (p.His470Tyr) rs767330046 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.146C>T (p.Thr49Ile) rs1337572355 0.00001
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) rs1002989047 0.00001
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) rs143403855 0.00001
NM_053025.4(MYLK):c.2066A>G (p.Asp689Gly) rs1308191051 0.00001
NM_053025.4(MYLK):c.2069C>T (p.Thr690Met) rs368417112 0.00001
NM_053025.4(MYLK):c.208G>A (p.Gly70Arg) rs779602599 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.2291A>G (p.Asp764Gly) rs763243524 0.00001
NM_053025.4(MYLK):c.2308G>A (p.Val770Met) rs1443338445 0.00001
NM_053025.4(MYLK):c.2398G>T (p.Val800Phe) rs758697820 0.00001
NM_053025.4(MYLK):c.2404G>A (p.Glu802Lys) rs1477764878 0.00001
NM_053025.4(MYLK):c.2415C>G (p.Cys805Trp) rs372019566 0.00001
NM_053025.4(MYLK):c.2462G>A (p.Arg821Gln) rs745500351 0.00001
NM_053025.4(MYLK):c.2481C>G (p.Ser827Arg) rs1131691270 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.2584G>C (p.Glu862Gln) rs770667051 0.00001
NM_053025.4(MYLK):c.2663G>A (p.Arg888His) rs528507616 0.00001
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318 0.00001
NM_053025.4(MYLK):c.2791C>T (p.Arg931Trp) rs762375833 0.00001
NM_053025.4(MYLK):c.2885C>A (p.Thr962Asn) rs201266960 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.2944C>T (p.Arg982Cys) rs375731554 0.00001
NM_053025.4(MYLK):c.2983A>G (p.Asn995Asp) rs756054110 0.00001
NM_053025.4(MYLK):c.3085G>A (p.Ala1029Thr) rs1302330903 0.00001
NM_053025.4(MYLK):c.3121G>A (p.Ala1041Thr) rs568590920 0.00001
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) rs748997552 0.00001
NM_053025.4(MYLK):c.3193G>C (p.Glu1065Gln) rs1064797009 0.00001
NM_053025.4(MYLK):c.319G>A (p.Glu107Lys) rs2063223394 0.00001
NM_053025.4(MYLK):c.3410C>T (p.Thr1137Ile) rs1042205525 0.00001
NM_053025.4(MYLK):c.3479C>T (p.Ala1160Val) rs1222534732 0.00001
NM_053025.4(MYLK):c.376A>G (p.Ser126Gly) rs754859097 0.00001
NM_053025.4(MYLK):c.3824G>A (p.Arg1275Gln) rs564792567 0.00001
NM_053025.4(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740 0.00001
NM_053025.4(MYLK):c.4016G>T (p.Cys1339Phe) rs749921840 0.00001
NM_053025.4(MYLK):c.4030C>T (p.Arg1344Trp) rs141271656 0.00001
NM_053025.4(MYLK):c.4110C>G (p.Ile1370Met) rs199971683 0.00001
NM_053025.4(MYLK):c.4207C>T (p.Arg1403Cys) rs748559781 0.00001
NM_053025.4(MYLK):c.4214G>A (p.Arg1405His) rs745547260 0.00001
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) rs757766496 0.00001
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) rs758272545 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_053025.4(MYLK):c.5374G>A (p.Val1792Met) rs746213310 0.00001
NM_053025.4(MYLK):c.5449G>A (p.Asp1817Asn) rs746327636 0.00001
NM_053025.4(MYLK):c.5609G>T (p.Ser1870Ile) rs759672855 0.00001
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) rs532767014 0.00001
NM_053025.4(MYLK):c.616C>T (p.Arg206Cys) rs557873884 0.00001
NM_053025.4(MYLK):c.673C>A (p.Gln225Lys) rs148174313 0.00001
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544 0.00001
NM_053025.4(MYLK):c.754+3A>G rs767382958 0.00001
NM_053025.4(MYLK):c.830A>G (p.Asn277Ser) rs745524804 0.00001
NM_053025.4(MYLK):c.844G>A (p.Glu282Lys) rs746464484 0.00001
NM_053025.4(MYLK):c.976A>G (p.Lys326Glu) rs140876214 0.00001
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) rs532659627
NM_053025.4(MYLK):c.1054G>A (p.Val352Ile) rs2062583745
NM_053025.4(MYLK):c.1103G>A (p.Gly368Glu) rs2062581349
NM_053025.4(MYLK):c.1123G>A (p.Ala375Thr) rs374894375
NM_053025.4(MYLK):c.1132C>T (p.Arg378Cys) rs11920433
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) rs375747284
NM_053025.4(MYLK):c.1258C>T (p.Pro420Ser)
NM_053025.4(MYLK):c.1259C>T (p.Pro420Leu)
NM_053025.4(MYLK):c.1304G>A (p.Cys435Tyr) rs1180342445
NM_053025.4(MYLK):c.1309G>T (p.Val437Phe)
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) rs1064792964
NM_053025.4(MYLK):c.1433G>C (p.Arg478Pro) rs775483725
NM_053025.4(MYLK):c.145A>G (p.Thr49Ala)
NM_053025.4(MYLK):c.1594G>C (p.Val532Leu) rs750871704
NM_053025.4(MYLK):c.1640G>A (p.Trp547Ter) rs779212460
NM_053025.4(MYLK):c.1651G>A (p.Gly551Arg)
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) rs2062115226
NM_053025.4(MYLK):c.2119C>T (p.Gln707Ter) rs768134055
NM_053025.4(MYLK):c.2140+5G>C rs758546370
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.4(MYLK):c.2395C>T (p.Arg799Trp)
NM_053025.4(MYLK):c.2429T>A (p.Met810Lys) rs1553805024
NM_053025.4(MYLK):c.2435A>C (p.Gln812Pro) rs773724805
NM_053025.4(MYLK):c.2463-12C>A
NM_053025.4(MYLK):c.248G>T (p.Cys83Phe) rs2108881147
NM_053025.4(MYLK):c.2570G>A (p.Gly857Glu)
NM_053025.4(MYLK):c.2707A>C (p.Lys903Gln)
NM_053025.4(MYLK):c.2739C>A (p.Asp913Glu)
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met) rs1553803967
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile)
NM_053025.4(MYLK):c.2921C>G (p.Pro974Arg) rs1553803753
NM_053025.4(MYLK):c.2957G>T (p.Gly986Val) rs2108581354
NM_053025.4(MYLK):c.2986G>A (p.Gly996Ser) rs1047925630
NM_053025.4(MYLK):c.2996G>A (p.Ser999Asn) rs764348039
NM_053025.4(MYLK):c.3028A>G (p.Ser1010Gly)
NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1]) rs758966808
NM_053025.4(MYLK):c.3149T>C (p.Met1050Thr)
NM_053025.4(MYLK):c.3166_3167insCTGAGACCCTGAAGCCAATGGGCAACGCCAAGCCTG (p.1032AETLKPMGNAKP[3]) rs2108578930
NM_053025.4(MYLK):c.3181T>C (p.Ser1061Pro) rs2108578854
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3283G>A (p.Gly1095Arg)
NM_053025.4(MYLK):c.3376C>T (p.Pro1126Ser) rs1479187660
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053025.4(MYLK):c.3526G>A (p.Ala1176Thr) rs758839208
NM_053025.4(MYLK):c.3598G>A (p.Glu1200Lys) rs2108456120
NM_053025.4(MYLK):c.3632C>T (p.Pro1211Leu) rs2108455726
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.373+4A>T rs370148607
NM_053025.4(MYLK):c.374-3C>A rs1473632768
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr)
NM_053025.4(MYLK):c.3887C>T (p.Thr1296Ile) rs1330691130
NM_053025.4(MYLK):c.3989A>C (p.Lys1330Thr) rs2108274576
NM_053025.4(MYLK):c.4012C>T (p.Pro1338Ser)
NM_053025.4(MYLK):c.401_413delinsG (p.Pro134_Lys138delinsArg)
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.4291C>T (p.Pro1431Ser) rs372664094
NM_053025.4(MYLK):c.4355T>G (p.Val1452Gly) rs2059118268
NM_053025.4(MYLK):c.4396A>G (p.Ile1466Val) rs2108197321
NM_053025.4(MYLK):c.4431G>T (p.Gln1477His)
NM_053025.4(MYLK):c.4544G>A (p.Cys1515Tyr) rs2059054509
NM_053025.4(MYLK):c.4571G>A (p.Cys1524Tyr) rs2108177478
NM_053025.4(MYLK):c.4612C>A (p.Leu1538Met)
NM_053025.4(MYLK):c.4620-1G>T rs2108112340
NM_053025.4(MYLK):c.4904A>C (p.Tyr1635Ser) rs2108088974
NM_053025.4(MYLK):c.4915G>A (p.Gly1639Ser) rs143900788
NM_053025.4(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) rs1328179065
NM_053025.4(MYLK):c.5163A>C (p.Lys1721Asn) rs2058173535
NM_053025.4(MYLK):c.5273T>C (p.Leu1758Pro)
NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys) rs2107889103
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748
NM_053025.4(MYLK):c.554C>G (p.Thr185Ser) rs1057518439
NM_053025.4(MYLK):c.5567A>G (p.Gln1856Arg)
NM_053025.4(MYLK):c.5720GGGAAG[1] (p.1905GE[2]) rs781353257
NM_053025.4(MYLK):c.5736AGA[1] (p.Glu1914del) rs974109787
NM_053025.4(MYLK):c.5742G>T (p.Glu1914Asp) rs1553768506
NM_053025.4(MYLK):c.608C>A (p.Pro203Gln) rs772426809
NM_053025.4(MYLK):c.608C>T (p.Pro203Leu) rs772426809
NM_053025.4(MYLK):c.611G>A (p.Ser204Asn) rs878855176
NM_053025.4(MYLK):c.617G>A (p.Arg206His)
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr) rs2064882893
NM_053025.4(MYLK):c.845A>G (p.Glu282Gly) rs1560148831
NM_053025.4(MYLK):c.899C>G (p.Pro300Arg)
NM_053025.4(MYLK):c.92A>G (p.Glu31Gly) rs2064878239
NM_053025.4(MYLK):c.932A>G (p.Asn311Ser)
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849

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