ClinVar Miner

List of variants in gene MYLK studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_053025.4(MYLK):c.1309+26G>A rs41302194 0.02649
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_053025.4(MYLK):c.1516+16C>T rs77590783 0.01553
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616 0.00551
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_053025.4(MYLK):c.652C>T (p.Leu218=) rs113035707 0.00441
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888 0.00440
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_053025.4(MYLK):c.5501-20G>A rs186240444 0.00153
NM_053025.4(MYLK):c.4415+9A>G rs187964526 0.00125
NM_053025.4(MYLK):c.1651+23C>G rs189118719 0.00123
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) rs11920433 0.00111
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_053025.4(MYLK):c.4800G>A (p.Arg1600=) rs111901174 0.00086
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) rs55669734 0.00071
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) rs140870383 0.00053
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767 0.00048
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420 0.00042
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692 0.00036
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617 0.00035
NM_053025.4(MYLK):c.5238+22A>T rs139889311 0.00034
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_053025.4(MYLK):c.754+17G>A rs146661440 0.00031
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) rs370190691 0.00029
NM_053025.4(MYLK):c.2127G>A (p.Val709=) rs138575251 0.00027
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_053025.4(MYLK):c.4322-11G>A rs371724615 0.00022
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_053025.4(MYLK):c.2140+15C>T rs370641462 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414 0.00018
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_053025.4(MYLK):c.3652+10C>T rs199521089 0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3448+15G>A rs199789942 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_053025.4(MYLK):c.5535T>C (p.Asp1845=) rs748934365 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.-4G>A rs989215521 0.00011
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.1631G>A (p.Arg544Gln) rs146724203 0.00010
NM_053025.4(MYLK):c.1651+17C>T rs181149737 0.00010
NM_053025.4(MYLK):c.312T>C (p.Tyr104=) rs147597398 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) rs201873975 0.00009
NM_053025.4(MYLK):c.4289-13del rs779252356 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_053025.4(MYLK):c.1689C>T (p.Ala563=) rs760193913 0.00008
NM_053025.4(MYLK):c.2598C>T (p.Gly866=) rs144654396 0.00008
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=) rs769086535 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.4332G>A (p.Glu1444=) rs139884214 0.00007
NM_053025.4(MYLK):c.5238+6G>A rs769544580 0.00007
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) rs147536036 0.00007
NM_053025.4(MYLK):c.639C>T (p.Asn213=) rs146073242 0.00007
NM_053025.4(MYLK):c.-185-18C>T rs1215314132 0.00006
NM_053025.4(MYLK):c.1167G>A (p.Leu389=) rs377631029 0.00006
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 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.3210C>T (p.Asp1070=) rs200758888 0.00006
NM_053025.4(MYLK):c.3537G>A (p.Ala1179=) rs375256466 0.00006
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) rs776975714 0.00006
NM_053025.4(MYLK):c.774-15C>G rs371552521 0.00006
NM_053025.4(MYLK):c.2595C>T (p.Asp865=) rs567610011 0.00005
NM_053025.4(MYLK):c.3831+10G>A rs763161470 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_053025.4(MYLK):c.-127+5T>C rs1301617511 0.00004
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) rs375501508 0.00004
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) rs531232445 0.00004
NM_053025.4(MYLK):c.2391-16C>T rs780727874 0.00004
NM_053025.4(MYLK):c.2631G>A (p.Val877=) rs371542306 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) rs375433770 0.00004
NM_053025.4(MYLK):c.4674G>A (p.Thr1558=) rs775672251 0.00004
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214 0.00004
NM_053025.4(MYLK):c.1668C>T (p.Tyr556=) rs752021743 0.00003
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237 0.00003
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504 0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535 0.00003
NM_053025.4(MYLK):c.4119A>G (p.Ser1373=) rs758896854 0.00003
NM_053025.4(MYLK):c.4221C>A (p.Ile1407=) rs780641277 0.00003
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) rs149002594 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.754+16C>T rs377397996 0.00003
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.2760C>T (p.Ala920=) rs368080781 0.00002
NM_053025.4(MYLK):c.2835G>A (p.Val945=) rs773308800 0.00002
NM_053025.4(MYLK):c.348G>A (p.Gln116=) rs1275647065 0.00002
NM_053025.4(MYLK):c.3528T>C (p.Ala1176=) rs766180911 0.00002
NM_053025.4(MYLK):c.435A>C (p.Ser145=) rs747805468 0.00002
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) rs2059054614 0.00002
NM_053025.4(MYLK):c.4812C>T (p.Ile1604=) rs138822291 0.00002
NM_053025.4(MYLK):c.717G>A (p.Ser239=) rs146960026 0.00002
NM_053025.4(MYLK):c.771T>C (p.Asn257=) rs369494886 0.00002
NM_053025.4(MYLK):c.-127+7G>A rs186567565 0.00001
NM_053025.4(MYLK):c.-175T>C rs1057524120 0.00001
NM_053025.4(MYLK):c.1309+20G>A rs996692523 0.00001
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg) rs190877071 0.00001
NM_053025.4(MYLK):c.1413C>G (p.Tyr471Ter) rs751748077 0.00001
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) rs149802186 0.00001
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) rs1275836800 0.00001
NM_053025.4(MYLK):c.1710C>T (p.Ile570=) rs1292269089 0.00001
NM_053025.4(MYLK):c.2100C>T (p.Ser700=) rs758518392 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.2462+19T>C rs372813937 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472 0.00001
NM_053025.4(MYLK):c.3209A>G (p.Asp1070Gly) rs751450529 0.00001
NM_053025.4(MYLK):c.3449-15A>G rs772826549 0.00001
NM_053025.4(MYLK):c.3462C>T (p.Ser1154=) rs768346816 0.00001
NM_053025.4(MYLK):c.374-7C>T rs1553826494 0.00001
NM_053025.4(MYLK):c.3867C>T (p.Ser1289=) rs561502268 0.00001
NM_053025.4(MYLK):c.3985+14C>A rs370132689 0.00001
NM_053025.4(MYLK):c.3985+20G>A rs1245454023 0.00001
NM_053025.4(MYLK):c.3985+3G>A rs2059656037 0.00001
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) rs565217509 0.00001
NM_053025.4(MYLK):c.4416-14C>T rs1392123047 0.00001
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) rs757766496 0.00001
NM_053025.4(MYLK):c.4710G>A (p.Ser1570=) rs778762375 0.00001
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701 0.00001
NM_053025.4(MYLK):c.492T>A (p.Ala164=) rs1258789113 0.00001
NM_053025.4(MYLK):c.5115-7C>T rs780015220 0.00001
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) rs532767014 0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249 0.00001
NM_053025.4(MYLK):c.588+10C>T rs886038709 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_053025.4(MYLK):c.750C>T (p.Ile250=) rs147622308 0.00001
NM_053025.4(MYLK):c.957G>A (p.Glu319=) rs864622770 0.00001
NM_053025.4(MYLK):c.-126-19C>G rs1553860788
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu)
NM_053025.4(MYLK):c.1041G>T (p.Leu347=) rs1553822525
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.1239C>T (p.Phe413=) rs1283457393
NM_053025.4(MYLK):c.1326G>A (p.Lys442=) rs1553821840
NM_053025.4(MYLK):c.1359C>G (p.Pro453=) rs200973568
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
NM_053025.4(MYLK):c.1605C>T (p.Cys535=) rs762735266
NM_053025.4(MYLK):c.1651+8C>T
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2130C>G (p.Leu710=) rs1553808920
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu) rs2061520061
NM_053025.4(MYLK):c.2462+20G>A rs565230903
NM_053025.4(MYLK):c.2462+7G>A rs1057524626
NM_053025.4(MYLK):c.2483G>T (p.Cys828Phe) rs767423365
NM_053025.4(MYLK):c.2701C>T (p.Leu901=) rs765778763
NM_053025.4(MYLK):c.2739C>T (p.Asp913=) rs530064548
NM_053025.4(MYLK):c.2820G>A (p.Glu940=) rs1432850591
NM_053025.4(MYLK):c.2829G>A (p.Arg943=)
NM_053025.4(MYLK):c.2938dup (p.Asp980fs) rs1553803719
NM_053025.4(MYLK):c.2958T>C (p.Gly986=) rs758026805
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
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.3677C>T (p.Pro1226Leu)
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His) rs2059732665
NM_053025.4(MYLK):c.4289-10_4289-9dup rs41431347
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-6C>A rs200774169
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.4296G>A (p.Lys1432=) rs1553781493
NM_053025.4(MYLK):c.4644G>A (p.Glu1548=)
NM_053025.4(MYLK):c.4842T>A (p.Asn1614Lys) rs820463
NM_053025.4(MYLK):c.5368+9_5368+11del rs753392124
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly)
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.5697G>A (p.Val1899=) rs2107807094
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.754+5C>T rs551530267
NM_053025.4(MYLK):c.773+16G>T
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347
NM_053031.4(MYLK):c.89-2_89del rs749876595

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.