ClinVar Miner

List of variants in gene MYLK2 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.473+231T>C rs4911532 0.68245
NM_033118.4(MYLK2):c.1711-296T>G rs6087783 0.42378
NM_033118.4(MYLK2):c.1224+201G>A rs6060976 0.41753
NM_033118.4(MYLK2):c.1711-61C>T rs6089093 0.29286
NM_033118.4(MYLK2):c.1424+107A>G rs4518038 0.16250
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_033118.4(MYLK2):c.473+86T>C rs12480305 0.09221
NM_033118.4(MYLK2):c.878+42T>C rs6060971 0.09170
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
NM_033118.4(MYLK2):c.1083-40C>G rs41293108 0.09160
NM_033118.4(MYLK2):c.878+215C>T rs6060972 0.09159
NM_033118.4(MYLK2):c.879-240C>T rs6060973 0.09158
NM_033118.4(MYLK2):c.53-230G>A rs1009454 0.09138
NM_033118.4(MYLK2):c.973-74G>A rs11907651 0.09124
NM_033118.4(MYLK2):c.772+33C>T rs6060970 0.08970
NM_033118.4(MYLK2):c.1710+245A>G rs6058471 0.08957
NM_033118.4(MYLK2):c.1710+120C>T rs28763881 0.08956
NM_033118.4(MYLK2):c.-67T>C rs1887731 0.08100
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_033118.4(MYLK2):c.1104C>T (p.Phe368=) rs6089088 0.01807
NM_033118.4(MYLK2):c.879-262C>T rs115124478 0.01367
NM_033118.4(MYLK2):c.266G>A (p.Gly89Asp) rs115398036 0.01365
NM_033118.4(MYLK2):c.1711-182G>A rs114661585 0.01354
NM_033118.4(MYLK2):c.973-141G>T rs11907637 0.01341
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_033118.4(MYLK2):c.1068C>T (p.Val356=) rs17340492 0.01201
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_033118.4(MYLK2):c.772+84G>A rs114835664 0.00776
NM_033118.4(MYLK2):c.773-173T>C rs142431797 0.00476
NM_033118.4(MYLK2):c.972+67G>A rs8116429 0.00468
NM_033118.4(MYLK2):c.1711-6C>T rs76603530 0.00376
NM_033118.4(MYLK2):c.1711-20C>G rs189282373 0.00374
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_033118.4(MYLK2):c.791C>T (p.Pro264Leu) rs142620954 0.00165
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00051
NM_033118.4(MYLK2):c.1778C>T (p.Ala593Val) rs146497334 0.00051
NM_033118.4(MYLK2):c.53-45A>G rs2182966 0.00048
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_033118.4(MYLK2):c.1176C>T (p.Asp392=) rs147099889 0.00031
NM_033118.4(MYLK2):c.786A>G (p.Pro262=) rs727504437 0.00029
NM_033118.4(MYLK2):c.473+11C>T rs373880854 0.00028
NM_033118.4(MYLK2):c.1308C>T (p.Asn436=) rs369603764 0.00023
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala) rs141105787 0.00021
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_033118.4(MYLK2):c.726G>A (p.Gln242=) rs145772898 0.00017
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00016
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_033118.4(MYLK2):c.910G>A (p.Glu304Lys) rs767211264 0.00012
NM_033118.4(MYLK2):c.*9C>T rs199816743 0.00011
NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) rs201134349 0.00011
NM_033118.4(MYLK2):c.828C>T (p.Thr276=) rs370429139 0.00011
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=) rs374233822 0.00010
NM_033118.4(MYLK2):c.1225-20G>T rs368839195 0.00009
NM_033118.4(MYLK2):c.719T>C (p.Val240Ala) rs531015124 0.00008
NM_033118.4(MYLK2):c.261G>A (p.Ala87=) rs374353729 0.00007
NM_033118.4(MYLK2):c.1018C>T (p.Arg340Cys) rs763678910 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.1224+8A>C rs375144075 0.00006
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) rs139331477 0.00006
NM_033118.4(MYLK2):c.1710+5C>T rs574644297 0.00006
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) rs750548324 0.00006
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_033118.4(MYLK2):c.1123G>A (p.Asp375Asn) rs397517472 0.00005
NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys) rs192056427 0.00005
NM_033118.4(MYLK2):c.1401T>C (p.Ser467=) rs770625966 0.00004
NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys) rs765059037 0.00004
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys) rs772716379 0.00004
NM_033118.4(MYLK2):c.507C>T (p.Ser169=) rs374538348 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.748G>C (p.Glu250Gln) rs1085307713 0.00004
NM_033118.4(MYLK2):c.1082+10C>T rs770363702 0.00003
NM_033118.4(MYLK2):c.1248C>T (p.Asn416=) rs138459623 0.00003
NM_033118.4(MYLK2):c.1380C>T (p.Ser460=) rs777799897 0.00003
NM_033118.4(MYLK2):c.1625A>G (p.Asn542Ser) rs775059729 0.00003
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys) rs368444888 0.00003
NM_033118.4(MYLK2):c.62C>T (p.Pro21Leu) rs562971411 0.00003
NM_033118.4(MYLK2):c.6G>A (p.Ala2=) rs201983158 0.00003
NM_033118.4(MYLK2):c.1265T>C (p.Val422Ala) rs878855173 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_033118.4(MYLK2):c.1606G>A (p.Ala536Thr) rs749619576 0.00002
NM_033118.4(MYLK2):c.511G>A (p.Ala171Thr) rs765400667 0.00002
NM_033118.4(MYLK2):c.933G>C (p.Leu311=) rs146745888 0.00002
NM_033118.4(MYLK2):c.1092C>T (p.Gly364=) rs745574239 0.00001
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=) rs759608229 0.00001
NM_033118.4(MYLK2):c.1233C>T (p.Asn411=) rs200963586 0.00001
NM_033118.4(MYLK2):c.1431C>T (p.Ser477=) rs764056444 0.00001
NM_033118.4(MYLK2):c.1525G>A (p.Val509Ile) rs183224373 0.00001
NM_033118.4(MYLK2):c.1534G>C (p.Glu512Gln) rs767857271 0.00001
NM_033118.4(MYLK2):c.1577+1G>A rs896469988 0.00001
NM_033118.4(MYLK2):c.1577+9C>T rs373252847 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_033118.4(MYLK2):c.1671G>T (p.Gln557His) rs1405172030 0.00001
NM_033118.4(MYLK2):c.1762T>C (p.Ser588Pro) rs1390693355 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033118.4(MYLK2):c.1766G>A (p.Gly589Glu) rs201168172 0.00001
NM_033118.4(MYLK2):c.1768G>T (p.Ala590Ser) rs150004017 0.00001
NM_033118.4(MYLK2):c.249C>T (p.Gly83=) rs774383057 0.00001
NM_033118.4(MYLK2):c.294C>T (p.Pro98=) rs373609417 0.00001
NM_033118.4(MYLK2):c.310C>T (p.Pro104Ser) rs794729066 0.00001
NM_033118.4(MYLK2):c.383T>A (p.Val128Glu) rs764494869 0.00001
NM_033118.4(MYLK2):c.471C>T (p.Ser157=) rs1033301935 0.00001
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp) rs775405264 0.00001
NM_033118.4(MYLK2):c.609C>T (p.Ser203=) rs748858933 0.00001
NM_033118.4(MYLK2):c.793G>C (p.Ala265Pro) rs1301751855 0.00001
NM_033118.4(MYLK2):c.874G>A (p.Gly292Arg) rs1026490690 0.00001
NM_033118.4(MYLK2):c.879-13C>T rs367859025 0.00001
NM_033118.4(MYLK2):c.951G>C (p.Lys317Asn) rs746087682 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NC_000020.11:g.31819321del rs556265822
NM_033118.4(MYLK2):c.*1G>T rs749491327
NM_033118.4(MYLK2):c.*27G>T rs181337772
NM_033118.4(MYLK2):c.-62C>T rs1555789794
NM_033118.4(MYLK2):c.1083-3C>G rs2123134814
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys) rs1174826293
NM_033118.4(MYLK2):c.1164G>C (p.Arg388Ser)
NM_033118.4(MYLK2):c.1173_1174del (p.Cys391_Asp392delinsTer) rs794729067
NM_033118.4(MYLK2):c.1224+201del rs201098253
NM_033118.4(MYLK2):c.1295+1G>A rs2123139586
NM_033118.4(MYLK2):c.1296-13G>T rs759181721
NM_033118.4(MYLK2):c.1301A>G (p.Asn434Ser)
NM_033118.4(MYLK2):c.1408G>C (p.Val470Leu) rs2123140021
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu) rs1600414450
NM_033118.4(MYLK2):c.1621AAC[1] (p.Asn542del)
NM_033118.4(MYLK2):c.166del (p.Ala56fs)
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del) rs774851606
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033118.4(MYLK2):c.258C>T (p.Pro86=) rs149280577
NM_033118.4(MYLK2):c.322_350dup (p.Gly119fs) rs1409844189
NM_033118.4(MYLK2):c.344A>C (p.Gln115Pro) rs727504681
NM_033118.4(MYLK2):c.420G>A (p.Arg140=) rs1555789909
NM_033118.4(MYLK2):c.473+10C>T rs958044110
NM_033118.4(MYLK2):c.599T>C (p.Leu200Pro)
NM_033118.4(MYLK2):c.627G>A (p.Glu209=) rs587781091
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp) rs773021152
NM_033118.4(MYLK2):c.772+44G>C rs35574032
NM_033118.4(MYLK2):c.878+8C>G rs1057521284
NM_033118.4(MYLK2):c.878+95C>A rs115953332
NM_033118.4(MYLK2):c.879-7T>C rs1057521613

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.