ClinVar Miner

List of variants in gene MYLK studied for Cardiovascular phenotype

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Total variants: 164
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HGVS dbSNP
NM_053025.3(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1028G>T (p.Ser343Ile) rs961194527
NM_053025.3(MYLK):c.1075C>A (p.Pro359Thr) rs202225055
NM_053025.3(MYLK):c.1110G>A (p.Glu370=) rs886038986
NM_053025.3(MYLK):c.1120C>T (p.Pro374Ser) rs1553822427
NM_053025.3(MYLK):c.1132C>G (p.Arg378Gly) rs11920433
NM_053025.3(MYLK):c.1133G>A (p.Arg378His) rs56378658
NM_053025.3(MYLK):c.1134T>C (p.Arg378=) rs886039123
NM_053025.3(MYLK):c.1219G>T (p.Gly407Cys) rs199719143
NM_053025.3(MYLK):c.1221C>A (p.Gly407=) rs765175526
NM_053025.3(MYLK):c.1314C>T (p.Ser438=) rs200423954
NM_053025.3(MYLK):c.1327C>T (p.Pro443Ser) rs35156360
NM_053025.3(MYLK):c.1330G>A (p.Glu444Lys) rs766381045
NM_053025.3(MYLK):c.1359C>T (p.Pro453=) rs200973568
NM_053025.3(MYLK):c.1375G>A (p.Gly459Ser) rs147311651
NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.3(MYLK):c.1496G>C (p.Ser499Thr) rs886039189
NM_053025.3(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.3(MYLK):c.1570G>A (p.Ala524Thr) rs375501508
NM_053025.3(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.3(MYLK):c.161G>A (p.Gly54Glu) rs767453947
NM_053025.3(MYLK):c.164G>A (p.Arg55Gln) rs768984022
NM_053025.3(MYLK):c.1669G>A (p.Ala557Thr) rs143403855
NM_053025.3(MYLK):c.1725G>A (p.Pro575=) rs376997840
NM_053025.3(MYLK):c.1745C>A (p.Thr582Asn) rs749069560
NM_053025.3(MYLK):c.1752A>G (p.Leu584=) rs775877814
NM_053025.3(MYLK):c.1786G>A (p.Ala596Thr) rs758715543
NM_053025.3(MYLK):c.1802A>C (p.His601Pro) rs45477891
NM_053025.3(MYLK):c.1821G>A (p.Arg607=) rs764273764
NM_053025.3(MYLK):c.1957G>A (p.Glu653Lys) rs142765858
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.3(MYLK):c.2023G>A (p.Gly675Arg) rs147008323
NM_053025.3(MYLK):c.2076G>A (p.Thr692=) rs147295583
NM_053025.3(MYLK):c.207C>T (p.Asn69=) rs376457425
NM_053025.3(MYLK):c.2101G>A (p.Ala701Thr) rs142835596
NM_053025.3(MYLK):c.2113C>T (p.Arg705Cys) rs547322504
NM_053025.3(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.3(MYLK):c.2132C>T (p.Thr711Met) rs531232445
NM_053025.3(MYLK):c.2149G>A (p.Asp717Asn) rs150936840
NM_053025.3(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.3(MYLK):c.2182C>T (p.Arg728Cys) rs143468713
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.226G>A (p.Gly76Arg) rs368413008
NM_053025.3(MYLK):c.2291A>G (p.Asp764Gly) rs763243524
NM_053025.3(MYLK):c.2396G>A (p.Arg799Gln) rs1435664878
NM_053025.3(MYLK):c.2433A>G (p.Leu811=) rs1320156713
NM_053025.3(MYLK):c.2474C>T (p.Pro825Leu) rs201332554
NM_053025.3(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.257G>A (p.Arg86Gln) rs138265409
NM_053025.3(MYLK):c.2582T>C (p.Leu861Pro) rs3732486
NM_053025.3(MYLK):c.2589G>A (p.Glu863=) rs536506601
NM_053025.3(MYLK):c.2628C>T (p.Arg876=) rs571744275
NM_053025.3(MYLK):c.2629G>A (p.Val877Met) rs34542174
NM_053025.3(MYLK):c.2631G>A (p.Val877=) rs371542306
NM_053025.3(MYLK):c.2742C>A (p.Asp914Glu) rs3732487
NM_053025.3(MYLK):c.2799G>A (p.Val933=) rs144806671
NM_053025.3(MYLK):c.2860C>T (p.Arg954Cys) rs749847711
NM_053025.3(MYLK):c.290A>C (p.His97Pro) rs756800370
NM_053025.3(MYLK):c.2936C>T (p.Pro979Leu) rs368229473
NM_053025.3(MYLK):c.2937G>A (p.Pro979=) rs146177534
NM_053025.3(MYLK):c.3000C>T (p.Ala1000=) rs141546581
NM_053025.3(MYLK):c.3020C>T (p.Ala1007Val) rs1382043515
NM_053025.3(MYLK):c.3027G>A (p.Glu1009=) rs12172926
NM_053025.3(MYLK):c.3048T>C (p.Asn1016=) rs758822048
NM_053025.3(MYLK):c.3052C>T (p.Gln1018Ter) rs377568543
NM_053025.3(MYLK):c.3062G>C (p.Gly1021Ala) rs200041144
NM_053025.3(MYLK):c.3076G>A (p.Val1026Met) rs778578954
NM_053025.3(MYLK):c.3096_3131del36 (p.Ala1044_Pro1055del) rs758966808
NM_053025.3(MYLK):c.3126G>A (p.Lys1042=) rs1199202202
NM_053025.3(MYLK):c.3183C>T (p.Ser1061=) rs370194660
NM_053025.3(MYLK):c.3196_3198delGAA (p.Glu1066del) rs75967604
NM_053025.3(MYLK):c.3210C>T (p.Asp1070=) rs200758888
NM_053025.3(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.3(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906
NM_053025.3(MYLK):c.3277_3278delAG (p.Ser1093Profs) rs1553803217
NM_053025.3(MYLK):c.333C>T (p.Gly111=) rs886039008
NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.3(MYLK):c.3438C>T (p.Leu1146=) rs146320279
NM_053025.3(MYLK):c.345C>T (p.Arg115=) rs1213297212
NM_053025.3(MYLK):c.3472G>A (p.Glu1158Lys) rs867887039
NM_053025.3(MYLK):c.3479C>T (p.Ala1160Val) rs1222534732
NM_053025.3(MYLK):c.3526G>A (p.Ala1176Thr) rs758839208
NM_053025.3(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.3(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063
NM_053025.3(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.3(MYLK):c.3639G>A (p.Val1213=) rs148419939
NM_053025.3(MYLK):c.3659C>T (p.Ala1220Val) rs370872760
NM_053025.3(MYLK):c.3681C>T (p.Ala1227=) rs201663473
NM_053025.3(MYLK):c.3749G>A (p.Arg1250His) rs139817477
NM_053025.3(MYLK):c.3750C>T (p.Arg1250=) rs201873975
NM_053025.3(MYLK):c.3755G>A (p.Gly1252Glu) rs886039046
NM_053025.3(MYLK):c.3805T>C (p.Cys1269Arg) rs750286831
NM_053025.3(MYLK):c.382G>A (p.Ala128Thr) rs147840022
NM_053025.3(MYLK):c.3831+5G>A rs1198605932
NM_053025.3(MYLK):c.383C>T (p.Ala128Val) rs143896146
NM_053025.3(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.3(MYLK):c.3844G>A (p.Glu1282Lys) rs765252740
NM_053025.3(MYLK):c.3868G>A (p.Glu1290Lys) rs145953933
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.3969C>T (p.Val1323=) rs192100022
NM_053025.3(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.3(MYLK):c.399G>T (p.Gln133His) rs140148380
NM_053025.3(MYLK):c.4014T>C (p.Pro1338=) rs55669734
NM_053025.3(MYLK):c.4026C>T (p.Asp1342=) rs886039112
NM_053025.3(MYLK):c.4031G>A (p.Arg1344Gln) rs774223564
NM_053025.3(MYLK):c.4082G>A (p.Ser1361Asn) rs886039143
NM_053025.3(MYLK):c.4119A>G (p.Ser1373=) rs758896854
NM_053025.3(MYLK):c.411C>G (p.Ser137=) rs55760507
NM_053025.3(MYLK):c.4194C>T (p.His1398=) rs17298941
NM_053025.3(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420
NM_053025.3(MYLK):c.4289-3dupC rs41431347
NM_053025.3(MYLK):c.4289-4C>G rs376670657
NM_053025.3(MYLK):c.4293G>A (p.Pro1431=) rs370153686
NM_053025.3(MYLK):c.4317T>C (p.Asp1439=) rs1254392
NM_053025.3(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969
NM_053025.3(MYLK):c.4341T>G (p.Val1447=) rs367629715
NM_053025.3(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617
NM_053025.3(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.3(MYLK):c.435A>C (p.Ser145=) rs747805468
NM_053025.3(MYLK):c.4367C>A (p.Thr1456Asn) rs1553781315
NM_053025.3(MYLK):c.4369G>A (p.Glu1457Lys) rs1018778128
NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_053025.3(MYLK):c.4520G>A (p.Arg1507Gln) rs574296889
NM_053025.3(MYLK):c.455G>A (p.Arg152His) rs201754358
NM_053025.3(MYLK):c.4565T>C (p.Val1522Ala) rs763880352
NM_053025.3(MYLK):c.4602C>T (p.Ile1534=) rs578009736
NM_053025.3(MYLK):c.4620-4G>A rs371533014
NM_053025.3(MYLK):c.4645C>T (p.Arg1549Cys) rs886039186
NM_053025.3(MYLK):c.465C>A (p.Ile155=) rs199517273
NM_053025.3(MYLK):c.4725C>T (p.Tyr1575=) rs374665486
NM_053025.3(MYLK):c.4744G>A (p.Val1582Met) rs755510742
NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.3(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.3(MYLK):c.4842T>C (p.Asn1614=) rs820463
NM_053025.3(MYLK):c.4915G>C (p.Gly1639Arg) rs143900788
NM_053025.3(MYLK):c.5079G>A (p.Lys1693=) rs141467675
NM_053025.3(MYLK):c.5121C>T (p.Arg1707=) rs144436556
NM_053025.3(MYLK):c.5237A>C (p.Gln1746Pro) rs1226517649
NM_053025.3(MYLK):c.5264T>C (p.Ile1755Thr) rs759291796
NM_053025.3(MYLK):c.5426C>G (p.Pro1809Arg) rs1553770523
NM_053025.3(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417
NM_053025.3(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_053025.3(MYLK):c.5501-3C>T rs747326867
NM_053025.3(MYLK):c.5586C>T (p.Asp1862=) rs563208285
NM_053025.3(MYLK):c.5631T>C (p.Asp1877=) rs772417046
NM_053025.3(MYLK):c.5673C>T (p.Ala1891=) rs769361741
NM_053025.3(MYLK):c.5695G>A (p.Val1899Met) rs1553768575
NM_053025.3(MYLK):c.569C>T (p.Pro190Leu) rs199736263
NM_053025.3(MYLK):c.5706G>A (p.Met1902Ile) rs1194619668
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.62C>A (p.Pro21His) rs28497577
NM_053025.3(MYLK):c.639C>T (p.Asn213=) rs146073242
NM_053025.3(MYLK):c.652C>T (p.Leu218=) rs113035707
NM_053025.3(MYLK):c.782T>C (p.Val261Ala) rs3796164
NM_053025.3(MYLK):c.844G>A (p.Glu282Lys) rs746464484
NM_053025.3(MYLK):c.984G>A (p.Ser328=) rs115018449
NM_053025.3(MYLK):c.993G>A (p.Thr331=) rs55932343
NM_053025.3(MYLK):c.999G>A (p.Pro333=) rs13319347
NM_053027.3(MYLK):c.2596G>A (p.Gly866Ser) rs587782966
NM_053027.3(MYLK):c.3982G>A (p.Val1328Met) rs730880164

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