ClinVar Miner

List of variants in gene MYLK studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 487
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.3558C>T (p.Thr1186=) rs40305 0.53400
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.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
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.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.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_053025.4(MYLK):c.1219G>T (p.Gly407Cys) rs199719143 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.3868G>A (p.Glu1290Lys) rs145953933 0.00035
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617 0.00035
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=) rs56262958 0.00032
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_053025.4(MYLK):c.716C>T (p.Ser239Leu) rs137982786 0.00030
NM_053025.4(MYLK):c.1785C>T (p.Ser595=) rs370094325 0.00029
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316 0.00029
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.429A>G (p.Arg143=) rs149940930 0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.249C>T (p.Cys83=) rs149179973 0.00023
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.842A>G (p.Lys281Arg) rs147770839 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.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.2693G>A (p.Arg898Gln) rs145507832 0.00017
NM_053025.4(MYLK):c.3981C>T (p.Val1327=) rs373556266 0.00017
NM_053025.4(MYLK):c.1569C>T (p.Cys523=) rs150378280 0.00016
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.3681C>T (p.Ala1227=) rs201663473 0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=) rs376457425 0.00014
NM_053025.4(MYLK):c.2364T>C (p.His788=) rs113910371 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.3639G>A (p.Val1213=) rs148419939 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_053025.4(MYLK):c.4593G>C (p.Lys1531Asn) rs200949109 0.00014
NM_053025.4(MYLK):c.2133G>A (p.Thr711=) rs150537500 0.00013
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.2898C>T (p.Pro966=) rs753785049 0.00012
NM_053025.4(MYLK):c.3112A>G (p.Met1038Val) rs763247566 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.3843C>T (p.Ser1281=) rs377231739 0.00011
NM_053025.4(MYLK):c.4620-4G>A rs371533014 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.2799G>A (p.Val933=) rs144806671 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.3183C>T (p.Ser1061=) rs370194660 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.3901C>T (p.Arg1301Cys) rs368321325 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.1212C>A (p.Pro404=) rs765597431 0.00008
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.2598C>T (p.Gly866=) rs144654396 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487 0.00008
NM_053025.4(MYLK):c.5369-10T>G rs373584324 0.00008
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr) rs758715543 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_053025.4(MYLK):c.3132C>T (p.Ala1044=) rs58176285 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 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.5715T>G (p.Gly1905=) rs753024354 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.2061G>A (p.Pro687=) rs539307414 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.2326G>A (p.Val776Met) rs372707781 0.00006
NM_053025.4(MYLK):c.2761G>A (p.Glu921Lys) rs202223681 0.00006
NM_053025.4(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083 0.00006
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550 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.4289-5C>A rs558865554 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.3120C>T (p.Asn1040=) rs759475810 0.00005
NM_053025.4(MYLK):c.3507G>A (p.Lys1169=) rs972248540 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.1113G>A (p.Arg371=) rs139391789 0.00004
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.1613G>A (p.Arg538Gln) rs368509953 0.00004
NM_053025.4(MYLK):c.1807A>G (p.Lys603Glu) rs751023438 0.00004
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794 0.00004
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) rs531232445 0.00004
NM_053025.4(MYLK):c.2183G>A (p.Arg728His) rs370154845 0.00004
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008 0.00004
NM_053025.4(MYLK):c.26C>T (p.Ser9Leu) rs779148876 0.00004
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) rs200117191 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.3000C>T (p.Ala1000=) rs141546581 0.00004
NM_053025.4(MYLK):c.3066C>T (p.Pro1022=) rs748796300 0.00004
NM_053025.4(MYLK):c.3084C>T (p.Asn1028=) rs751399308 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.4170C>T (p.Asn1390=) rs545959628 0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838 0.00004
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) rs375433770 0.00004
NM_053025.4(MYLK):c.4335C>T (p.Pro1445=) rs756038706 0.00004
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214 0.00004
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343 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.1668C>T (p.Tyr556=) rs752021743 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.2076G>A (p.Thr692=) rs147295583 0.00003
NM_053025.4(MYLK):c.2096A>G (p.Asn699Ser) rs757524646 0.00003
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504 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.3048T>C (p.Asn1016=) rs758822048 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.3660G>A (p.Ala1220=) rs765219262 0.00003
NM_053025.4(MYLK):c.374-6T>C rs1474053544 0.00003
NM_053025.4(MYLK):c.3910C>G (p.His1304Asp) rs758161864 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) rs750002545 0.00003
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) rs149002594 0.00003
NM_053025.4(MYLK):c.4343A>T (p.Asp1448Val) rs757392371 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_053025.4(MYLK):c.4941C>T (p.Ile1647=) rs200291268 0.00003
NM_053025.4(MYLK):c.5132C>T (p.Thr1711Met) rs374662467 0.00003
NM_053025.4(MYLK):c.5586C>T (p.Asp1862=) rs563208285 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.609G>A (p.Pro203=) rs748312013 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.1008G>A (p.Pro336=) rs143682943 0.00002
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.2141-19G>T rs530951493 0.00002
NM_053025.4(MYLK):c.2254G>A (p.Val752Met) rs144740858 0.00002
NM_053025.4(MYLK):c.2390+1G>A rs762794821 0.00002
NM_053025.4(MYLK):c.2596G>A (p.Gly866Ser) rs587782966 0.00002
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517 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.4154G>A (p.Arg1385His) rs762795374 0.00002
NM_053025.4(MYLK):c.4213C>T (p.Arg1405Cys) rs755248772 0.00002
NM_053025.4(MYLK):c.4289-4_4289-3insA rs1384459607 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.4656C>T (p.Asp1552=) rs749367561 0.00002
NM_053025.4(MYLK):c.465C>A (p.Ile155=) rs199517273 0.00002
NM_053025.4(MYLK):c.4709C>T (p.Ser1570Leu) rs747368032 0.00002
NM_053025.4(MYLK):c.4838-7G>A rs377561378 0.00002
NM_053025.4(MYLK):c.5155C>T (p.Leu1719=) rs1057523680 0.00002
NM_053025.4(MYLK):c.524G>T (p.Gly175Val) rs375456836 0.00002
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926 0.00002
NM_053025.4(MYLK):c.5649G>A (p.Lys1883=) rs748955317 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.771T>C (p.Asn257=) rs369494886 0.00002
NM_053025.4(MYLK):c.914C>T (p.Ser305Phe) rs1431655501 0.00002
NM_053025.4(MYLK):c.1028G>T (p.Ser343Ile) rs961194527 0.00001
NM_053025.4(MYLK):c.1062G>A (p.Pro354=) rs149571440 0.00001
NM_053025.4(MYLK):c.1110G>A (p.Glu370=) rs886038986 0.00001
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
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.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1669G>A (p.Ala557Thr) rs143403855 0.00001
NM_053025.4(MYLK):c.1878G>A (p.Leu626=) rs376450306 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.2182C>T (p.Arg728Cys) rs143468713 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.2328G>A (p.Val776=) rs1057524371 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 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.243G>A (p.Leu81=) rs1033918125 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.2607G>A (p.Val869=) rs1399244370 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.2853C>T (p.Val951=) rs769322491 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.3315A>G (p.Gln1105=) rs1576620303 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.369A>T (p.Val123=) rs746517311 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.4093T>A (p.Ser1365Thr) rs747543921 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.4289-3C>A rs775802631 0.00001
NM_053025.4(MYLK):c.4301A>G (p.Glu1434Gly) rs771619672 0.00001
NM_053025.4(MYLK):c.4362C>T (p.Ile1454=) rs753209903 0.00001
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) rs565217509 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_053025.4(MYLK):c.4625C>T (p.Ser1542Leu) rs775096552 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.4818T>C (p.Phe1606=) rs1044750960 0.00001
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701 0.00001
NM_053025.4(MYLK):c.4936A>G (p.Ser1646Gly) rs758272545 0.00001
NM_053025.4(MYLK):c.493del (p.Thr165fs) rs748806035 0.00001
NM_053025.4(MYLK):c.5264T>C (p.Ile1755Thr) rs759291796 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.571C>G (p.Gln191Glu) rs794727880 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.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.729G>A (p.Ser243=) rs374159537 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
GRCh37/hg19 3q21.1(chr3:123455170-123487068)x1
NM_053025.4(MYLK):c.-185-1995G>A
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1025C>G (p.Ser342Cys) rs140100605
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.1170G>C (p.Gly390=) rs1553822363
NM_053025.4(MYLK):c.1173C>G (p.Ser391Arg) rs375747284
NM_053025.4(MYLK):c.1209C>A (p.Ile403=) rs1553822281
NM_053025.4(MYLK):c.1221C>A (p.Gly407=) rs765175526
NM_053025.4(MYLK):c.1239C>T (p.Phe413=) rs1283457393
NM_053025.4(MYLK):c.124C>T (p.Leu42Phe)
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.1327C>A (p.Pro443Thr) rs35156360
NM_053025.4(MYLK):c.1340G>C (p.Trp447Ser) rs886043581
NM_053025.4(MYLK):c.1341G>A (p.Trp447Ter) rs2108787283
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.1481G>C (p.Gly494Ala) rs1052992526
NM_053025.4(MYLK):c.1542C>G (p.Pro514=) rs1576750910
NM_053025.4(MYLK):c.1556T>C (p.Val519Ala) rs2108757340
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.1698T>C (p.Ala566=) rs1576734425
NM_053025.4(MYLK):c.1713G>A (p.Gln571=)
NM_053025.4(MYLK):c.1726G>A (p.Glu576Lys) rs2062115226
NM_053025.4(MYLK):c.188_189del (p.Gln63fs) rs2108881584
NM_053025.4(MYLK):c.1941A>C (p.Ser647=) rs1241420717
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.1A>G (p.Met1Val) rs776588381
NM_053025.4(MYLK):c.2005T>G (p.Phe669Val)
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.2190del (p.Thr731fs) rs2108636142
NM_053025.4(MYLK):c.2304C>T (p.Phe768=) rs1560108139
NM_053025.4(MYLK):c.232C>T (p.Arg78Cys)
NM_053025.4(MYLK):c.2395C>T (p.Arg799Trp)
NM_053025.4(MYLK):c.241_244dup (p.Asp82fs) rs2108881184
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.2608C>T (p.Arg870Ter) rs865903260
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2617C>T (p.Leu873=) rs1466712472
NM_053025.4(MYLK):c.2643G>A (p.Gln881=) rs765727285
NM_053025.4(MYLK):c.2707A>C (p.Lys903Gln)
NM_053025.4(MYLK):c.2739C>A (p.Asp913Glu)
NM_053025.4(MYLK):c.2740G>T (p.Asp914Tyr) rs561148360
NM_053025.4(MYLK):c.2791_2792delinsAT (p.Arg931Met) rs1553803967
NM_053025.4(MYLK):c.2866G>A (p.Val956Ile)
NM_053025.4(MYLK):c.2881G>A (p.Gly961Arg)
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.3128C>G (p.Pro1043Arg)
NM_053025.4(MYLK):c.3138C>T (p.Thr1046=) rs1279460356
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.3167A>G (p.Asp1056Gly) rs1553803351
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.3380_3382delinsGCC (p.Ala1127_Thr1128delinsGlyPro) rs886043880
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053025.4(MYLK):c.3448+13G>A rs1576619400
NM_053025.4(MYLK):c.3504C>A (p.Tyr1168Ter) rs1255387521
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+1G>A rs1576847488
NM_053025.4(MYLK):c.373+4A>T rs370148607
NM_053025.4(MYLK):c.373+6T>A rs2063220564
NM_053025.4(MYLK):c.374-3C>A rs1473632768
NM_053025.4(MYLK):c.3751G>A (p.Ala1251Thr)
NM_053025.4(MYLK):c.3832-8G>C rs202218458
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.4058_4060del (p.Tyr1353_Gly1354delinsCys) rs1560027806
NM_053025.4(MYLK):c.422+6T>G
NM_053025.4(MYLK):c.4225G>A (p.Val1409Met) rs751056847
NM_053025.4(MYLK):c.423-8C>T rs751696363
NM_053025.4(MYLK):c.4263C>T (p.Leu1421=) rs2108272206
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-3del rs41431347
NM_053025.4(MYLK):c.4289-4C>A rs376670657
NM_053025.4(MYLK):c.4291C>T (p.Pro1431Ser) rs372664094
NM_053025.4(MYLK):c.4333C>T (p.Pro1445Ser) rs2108198278
NM_053025.4(MYLK):c.4344T>C (p.Asp1448=)
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.4404G>A (p.Glu1468=) rs1576427810
NM_053025.4(MYLK):c.4425T>G (p.Phe1475Leu) rs1064797297
NM_053025.4(MYLK):c.4427G>A (p.Gly1476Glu) rs2108179496
NM_053025.4(MYLK):c.4431G>T (p.Gln1477His)
NM_053025.4(MYLK):c.4538T>C (p.Met1513Thr) rs1560012143
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.4573G>A (p.Val1525Met)
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) rs578009736
NM_053025.4(MYLK):c.4612C>A (p.Leu1538Met)
NM_053025.4(MYLK):c.4620-1G>T rs2108112340
NM_053025.4(MYLK):c.4649T>C (p.Ile1550Thr) rs2108111906
NM_053025.4(MYLK):c.4681G>C (p.Glu1561Gln) rs1114167363
NM_053025.4(MYLK):c.469G>A (p.Gly157Arg) rs900244669
NM_053025.4(MYLK):c.4891G>A (p.Glu1631Lys) rs2108089067
NM_053025.4(MYLK):c.4896G>C (p.Val1632=) rs2058710543
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.5253T>C (p.Ala1751=) rs1475852496
NM_053025.4(MYLK):c.5273T>C (p.Leu1758Pro)
NM_053025.4(MYLK):c.5350G>A (p.Glu1784Lys) rs2107889103
NM_053025.4(MYLK):c.5392G>A (p.Glu1798Lys) rs777616795
NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn) rs139045748
NM_053025.4(MYLK):c.5460T>G (p.Val1820=)
NM_053025.4(MYLK):c.5489G>A (p.Cys1830Tyr) rs1302244958
NM_053025.4(MYLK):c.5567A>G (p.Gln1856Arg)
NM_053025.4(MYLK):c.5619C>T (p.Cys1873=)
NM_053025.4(MYLK):c.5659A>G (p.Ser1887Gly) rs2057335896
NM_053025.4(MYLK):c.5709G>A (p.Glu1903=) rs758153631
NM_053025.4(MYLK):c.570G>T (p.Pro190=) rs56377408
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.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.600A>C (p.Pro200=)
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.848C>G (p.Ser283Trp)
NM_053025.4(MYLK):c.849G>A (p.Ser283=) rs758274846
NM_053025.4(MYLK):c.885G>A (p.Lys295=) rs1230223829
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

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.