ClinVar Miner

List of variants in gene MYLK reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
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.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.24C>G (p.Ala8=) rs78118111 0.00229
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.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.3898G>A (p.Ala1300Thr) rs149530842 0.00055
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.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692 0.00036
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 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.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
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.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 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.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.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.4620-4G>A rs371533014 0.00011
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 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.2462+5G>A rs374003770 0.00008
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.3132C>T (p.Ala1044=) rs58176285 0.00007
NM_053025.4(MYLK):c.5238+6G>A rs769544580 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.1775T>C (p.Val592Ala) rs374420141 0.00006
NM_053025.4(MYLK):c.229G>A (p.Gly77Ser) rs139000120 0.00006
NM_053025.4(MYLK):c.3184G>A (p.Ala1062Thr) rs11558550 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_053025.4(MYLK):c.3831+10G>A rs763161470 0.00005
NM_053025.4(MYLK):c.1392T>C (p.Tyr464=) rs142740353 0.00004
NM_053025.4(MYLK):c.226G>A (p.Gly76Arg) rs368413008 0.00004
NM_053025.4(MYLK):c.2652G>A (p.Glu884=) rs1314650520 0.00004
NM_053025.4(MYLK):c.3000C>T (p.Ala1000=) rs141546581 0.00004
NM_053025.4(MYLK):c.374-9T>C rs376695367 0.00004
NM_053025.4(MYLK):c.998C>T (p.Pro333Leu) rs568039936 0.00004
NM_053025.4(MYLK):c.1360G>A (p.Val454Met) rs746226982 0.00003
NM_053025.4(MYLK):c.1509A>G (p.Gln503=) rs948829374 0.00003
NM_053025.4(MYLK):c.1673G>A (p.Arg558His) rs753464560 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.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141 0.00003
NM_053025.4(MYLK):c.609G>A (p.Pro203=) rs748312013 0.00003
NM_053025.4(MYLK):c.2407T>C (p.Cys803Arg) rs1373697705 0.00002
NM_053025.4(MYLK):c.2605G>A (p.Val869Met) rs749162097 0.00002
NM_053025.4(MYLK):c.4416-8A>T rs199790673 0.00002
NM_053025.4(MYLK):c.648G>T (p.Gln216His) rs753350784 0.00002
NM_053025.4(MYLK):c.1432C>T (p.Arg478Trp) rs200059795 0.00001
NM_053025.4(MYLK):c.1496G>C (p.Ser499Thr) rs886039189 0.00001
NM_053025.4(MYLK):c.1525G>A (p.Val509Met) rs532203771 0.00001
NM_053025.4(MYLK):c.1528A>T (p.Met510Leu) rs368575789 0.00001
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1839G>T (p.Leu613=) rs771131171 0.00001
NM_053025.4(MYLK):c.2075C>T (p.Thr692Met) rs776858093 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.2328G>A (p.Val776=) rs1057524371 0.00001
NM_053025.4(MYLK):c.2331C>T (p.Phe777=) rs747392280 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.263C>G (p.Thr88Ser) rs1285946380 0.00001
NM_053025.4(MYLK):c.2670G>A (p.Gln890=) rs749153170 0.00001
NM_053025.4(MYLK):c.3172A>T (p.Asn1058Tyr) rs748997552 0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446 0.00001
NM_053025.4(MYLK):c.4105G>A (p.Glu1369Lys) rs2059418764 0.00001
NM_053025.4(MYLK):c.4620-5C>T rs760680632 0.00001
NM_053025.4(MYLK):c.570G>A (p.Pro190=) rs56377408 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_053025.4(MYLK):c.1048G>A (p.Ala350Thr) rs532659627
NM_053025.4(MYLK):c.1143C>A (p.Thr381=) rs775410725
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.1206A>T (p.Arg402Ser) rs908614111
NM_053025.4(MYLK):c.1327C>A (p.Pro443Thr) rs35156360
NM_053025.4(MYLK):c.1390T>G (p.Tyr464Asp)
NM_053025.4(MYLK):c.17T>C (p.Leu6Pro) rs2109106403
NM_053025.4(MYLK):c.1942+6T>C rs2061616966
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2079C>T (p.Tyr693=) rs774049321
NM_053025.4(MYLK):c.2103T>C (p.Ala701=) rs765840432
NM_053025.4(MYLK):c.2105G>A (p.Gly702Glu) rs759950113
NM_053025.4(MYLK):c.2740G>A (p.Asp914Asn) rs561148360
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) rs886057861
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3684C>T (p.Pro1228=)
NM_053025.4(MYLK):c.3972C>T (p.Asn1324=) rs2059656603
NM_053025.4(MYLK):c.4055G>T (p.Trp1352Leu) rs2059420831
NM_053025.4(MYLK):c.4131G>A (p.Thr1377=) rs756697460
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.4602C>T (p.Ile1534=) rs578009736
NM_053025.4(MYLK):c.4746G>A (p.Val1582=) rs1560002061
NM_053025.4(MYLK):c.5120G>A (p.Arg1707His) rs1328179065
NM_053025.4(MYLK):c.523G>A (p.Gly175Arg) rs2062771575
NM_053025.4(MYLK):c.5368G>A (p.Glu1790Lys)
NM_053025.4(MYLK):c.5510A>C (p.Asp1837Ala) rs918643720
NM_053025.4(MYLK):c.5529C>A (p.Phe1843Leu) rs1559957766
NM_053025.4(MYLK):c.5535T>G (p.Asp1845Glu)
NM_053025.4(MYLK):c.587A>C (p.Lys196Thr)
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.773+10G>A rs747893112
NM_053025.4(MYLK):c.7G>T (p.Asp3Tyr) rs2064882893
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849

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