ClinVar Miner

List of variants in gene MYLK2 studied for not provided

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Gene type:
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Total variants: 161
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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_033118.3(MYLK2):c.*911T>A rs7269370 0.08602
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.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.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.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.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.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.1356G>A (p.Glu452=) rs147329431 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.1657C>T (p.Arg553Cys) rs765059037 0.00004
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys) rs772716379 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 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.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.194C>T (p.Thr65Ile) rs747109352 0.00003
NM_033118.4(MYLK2):c.293C>T (p.Pro98Leu) rs766074380 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.1606G>A (p.Ala536Thr) rs749619576 0.00002
NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser) rs199791180 0.00002
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val) rs763316056 0.00002
NM_033118.4(MYLK2):c.364G>C (p.Asp122His) rs748134754 0.00002
NM_033118.4(MYLK2):c.511G>A (p.Ala171Thr) rs765400667 0.00002
NM_033118.4(MYLK2):c.1080dup (p.Tyr361fs) rs1408280476 0.00001
NM_033118.4(MYLK2):c.1137C>T (p.Thr379=) rs759608229 0.00001
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) rs786205283 0.00001
NM_033118.4(MYLK2):c.125A>G (p.Lys42Arg) rs150342605 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.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.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.383T>A (p.Val128Glu) rs764494869 0.00001
NM_033118.4(MYLK2):c.398C>T (p.Ala133Val) rs761688232 0.00001
NM_033118.4(MYLK2):c.471C>T (p.Ser157=) rs1033301935 0.00001
NM_033118.4(MYLK2):c.577G>A (p.Ala193Thr) rs1228303561 0.00001
NM_033118.4(MYLK2):c.606G>C (p.Glu202Asp) rs775405264 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
NC_000020.11:g.31819321del rs556265822
NM_033118.4(MYLK2):c.*10G>T
NM_033118.4(MYLK2):c.*27G>T rs181337772
NM_033118.4(MYLK2):c.1018C>A (p.Arg340Ser)
NM_033118.4(MYLK2):c.103G>C (p.Asp35His)
NM_033118.4(MYLK2):c.1048G>A (p.Glu350Lys)
NM_033118.4(MYLK2):c.1060G>T (p.Glu354Ter) rs2062281377
NM_033118.4(MYLK2):c.1083-3C>G rs2123134814
NM_033118.4(MYLK2):c.1138G>A (p.Glu380Lys) rs1174826293
NM_033118.4(MYLK2):c.1159G>T (p.Val387Phe)
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.1192C>A (p.His398Asn) rs1197394195
NM_033118.4(MYLK2):c.1224+201del rs201098253
NM_033118.4(MYLK2):c.1257del (p.His420fs)
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.1425-6C>A rs200234935
NM_033118.4(MYLK2):c.146C>T (p.Thr49Ile)
NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile) rs747657397
NM_033118.4(MYLK2):c.1578-7C>T rs1600414382
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu) rs1600414450
NM_033118.4(MYLK2):c.1617G>C (p.Trp539Cys) rs1397767652
NM_033118.4(MYLK2):c.1621AAC[1] (p.Asn542del)
NM_033118.4(MYLK2):c.1628_1641del (p.Leu543fs)
NM_033118.4(MYLK2):c.1646G>A (p.Arg549His)
NM_033118.4(MYLK2):c.166del (p.Ala56fs)
NM_033118.4(MYLK2):c.1710+15A>T rs6060980
NM_033118.4(MYLK2):c.1748AGA[1] (p.Lys584del) rs774851606
NM_033118.4(MYLK2):c.1771_*12del (p.Leu591_Ter597del)
NM_033118.4(MYLK2):c.1A>G (p.Met1Val)
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.520C>T (p.Leu174Phe) rs2123127754
NM_033118.4(MYLK2):c.532G>C (p.Gly178Arg)
NM_033118.4(MYLK2):c.552C>A (p.Ser184Arg) rs786205284
NM_033118.4(MYLK2):c.599T>C (p.Leu200Pro)
NM_033118.4(MYLK2):c.623G>A (p.Gly208Glu) rs786205407
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp) rs773021152
NM_033118.4(MYLK2):c.772+14A>T rs2062253179
NM_033118.4(MYLK2):c.772+44G>C rs35574032
NM_033118.4(MYLK2):c.808C>T (p.Arg270Cys)
NM_033118.4(MYLK2):c.869C>T (p.Ala290Val)
NM_033118.4(MYLK2):c.878+95C>A rs115953332

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