ClinVar Miner

List of variants in gene MYLK2 studied for not specified

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_033118.4(MYLK2):c.684T>C (p.Ile228=) rs6058469 0.09162
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.266G>A (p.Gly89Asp) rs115398036 0.01365
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.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.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.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.260C>T (p.Ala87Val) rs121908107 0.00014
NM_033118.4(MYLK2):c.381G>A (p.Arg127=) rs141524173 0.00013
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.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.105C>T (p.Asp35=) rs551492045 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.425G>T (p.Gly142Val) rs56385445 0.00006
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe) rs140233643 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.417C>T (p.Ala139=) rs560951755 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_033118.4(MYLK2):c.-13G>A rs397517470 0.00003
NM_033118.4(MYLK2):c.1082+10C>T rs770363702 0.00003
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr) rs727503306 0.00003
NM_033118.4(MYLK2):c.1284C>T (p.Gly428=) rs727503305 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_033118.4(MYLK2):c.1683G>A (p.Lys561=) rs756719732 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.1112T>C (p.Ile371Thr) rs727505336 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.1577+9C>T rs373252847 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033118.4(MYLK2):c.21A>G (p.Ala7=) rs754853086 0.00001
NM_033118.4(MYLK2):c.310C>T (p.Pro104Ser) rs794729066 0.00001
NM_033118.4(MYLK2):c.353C>T (p.Ser118Leu) rs727503304 0.00001
NM_033118.4(MYLK2):c.393G>A (p.Lys131=) rs397517474 0.00001
NM_033118.4(MYLK2):c.609C>T (p.Ser203=) rs748858933 0.00001
NM_033118.4(MYLK2):c.972+13C>T rs876657524 0.00001
NM_033118.4(MYLK2):c.*1G>T rs749491327
NM_033118.4(MYLK2):c.-62C>T rs1555789794
NM_033118.4(MYLK2):c.1016A>G (p.His339Arg) rs397517471
NM_033118.4(MYLK2):c.1045A>T (p.Ile349Phe)
NM_033118.4(MYLK2):c.1048G>A (p.Glu350Lys)
NM_033118.4(MYLK2):c.1580C>A (p.Ala527Asp)
NM_033118.4(MYLK2):c.1659C>G (p.Arg553=) rs727504624
NM_033118.4(MYLK2):c.1669C>G (p.Gln557Glu) rs763971356
NM_033118.4(MYLK2):c.16G>A (p.Gly6Arg) rs727503302
NM_033118.4(MYLK2):c.1711-4C>T rs372190501
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.254G>A (p.Gly85Glu) rs727505328
NM_033118.4(MYLK2):c.277C>A (p.Pro93Thr) rs397517473
NM_033118.4(MYLK2):c.340G>A (p.Glu114Lys) rs727503303
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.435C>T (p.Ala145=)
NM_033118.4(MYLK2):c.436T>C (p.Phe146Leu) rs2062247462
NM_033118.4(MYLK2):c.473+10C>T rs958044110
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.802C>T (p.Pro268Ser) rs397517475
NM_033118.4(MYLK2):c.878+8C>G rs1057521284
NM_033118.4(MYLK2):c.879-7T>C rs1057521613

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