ClinVar Miner

List of variants in gene MYLK reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 207
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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.3402C>T (p.Asn1134=) rs865358 0.94358
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_053025.4(MYLK):c.-153C>T rs2700408 0.74210
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_053025.4(MYLK):c.*612C>A rs9422 0.36021
NM_053025.4(MYLK):c.*1809A>G rs6438804 0.30158
NM_053025.4(MYLK):c.*406G>C rs6438805 0.24676
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_053025.4(MYLK):c.*419C>T rs115932105 0.02102
NM_053025.4(MYLK):c.*73A>C rs528233991 0.01859
NM_053025.4(MYLK):c.*1538A>G rs116709353 0.01769
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.*945G>A rs112095273 0.01003
NM_053025.4(MYLK):c.*197T>A rs116218482 0.00949
NM_053025.4(MYLK):c.*213T>A rs115815057 0.00946
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_053025.4(MYLK):c.*77dup rs886057857 0.00661
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.*1090A>G rs139868162 0.00460
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_053025.4(MYLK):c.*404G>A rs115391213 0.00380
NM_053025.4(MYLK):c.*1302T>C rs113046889 0.00373
NM_053025.4(MYLK):c.984G>A (p.Ser328=) rs115018449 0.00277
NM_053025.4(MYLK):c.*76_*77insAC rs879035240 0.00269
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
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.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.*95C>G rs560639262 0.00132
NM_053025.4(MYLK):c.4415+9A>G rs187964526 0.00125
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.*1653G>A rs780658640 0.00096
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.*1647G>C rs182575175 0.00051
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_053025.4(MYLK):c.*1070T>A rs185600011 0.00044
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420 0.00042
NM_053025.4(MYLK):c.*1135G>A rs150645157 0.00036
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617 0.00035
NM_053025.4(MYLK):c.*1191T>C rs756047939 0.00032
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.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp) rs150007422 0.00018
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln) rs145507832 0.00017
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_053025.4(MYLK):c.-75A>G rs75245913 0.00015
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.3448+15G>A rs199789942 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_053025.4(MYLK):c.-185-5A>G rs569756528 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671 0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_053025.4(MYLK):c.4289-13del rs779252356 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431 0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487 0.00008
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=) rs773082759 0.00007
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) rs766027720 0.00006
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) rs757464897 0.00006
NM_053025.4(MYLK):c.*1134C>T rs539295972 0.00004
NM_053025.4(MYLK):c.*165del rs886057856 0.00004
NM_053025.4(MYLK):c.*334C>T rs565933037 0.00004
NM_053025.4(MYLK):c.119G>A (p.Arg40Gln) rs767877538 0.00004
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690 0.00004
NM_053025.4(MYLK):c.2124C>T (p.Ala708=) rs372939794 0.00004
NM_053025.4(MYLK):c.2733G>A (p.Ser911=) rs200117191 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_053025.4(MYLK):c.374-9T>C rs376695367 0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838 0.00004
NM_053025.4(MYLK):c.969G>A (p.Glu323=) rs368095613 0.00004
NM_053025.4(MYLK):c.993G>A (p.Thr331=) rs55932343 0.00004
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_053025.4(MYLK):c.4744G>A (p.Val1582Met) rs755510742 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.619G>A (p.Val207Met) rs756560698 0.00003
NM_053025.4(MYLK):c.859A>G (p.Ser287Gly) rs886057865 0.00003
NM_053025.4(MYLK):c.*1630G>A rs886057839 0.00002
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) rs201619646 0.00002
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568 0.00002
NM_053025.4(MYLK):c.188A>G (p.Gln63Arg) rs778259023 0.00002
NM_053025.4(MYLK):c.2086G>A (p.Glu696Lys) rs769548990 0.00002
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.3611G>A (p.Arg1204Gln) rs142421063 0.00002
NM_053025.4(MYLK):c.5329C>T (p.Pro1777Ser) rs748200926 0.00002
NM_053025.4(MYLK):c.643A>G (p.Met215Val) rs754479443 0.00002
NM_053025.4(MYLK):c.*389G>C rs1233084998 0.00001
NM_053025.4(MYLK):c.*960C>T rs886057844 0.00001
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
NM_053025.4(MYLK):c.1334T>G (p.Val445Gly) rs760407806 0.00001
NM_053025.4(MYLK):c.1480G>A (p.Gly494Ser) rs1002989047 0.00001
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1672C>T (p.Arg558Cys) rs1272395846 0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560 0.00001
NM_053025.4(MYLK):c.1952C>T (p.Pro651Leu) rs555029377 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929 0.00001
NM_053025.4(MYLK):c.2776C>T (p.Arg926Cys) rs766824318 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648 0.00001
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740 0.00001
NM_053025.4(MYLK):c.3608C>T (p.Ser1203Phe) rs777876067 0.00001
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=) rs563569935 0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446 0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249 0.00001
NM_053025.4(MYLK):c.682G>A (p.Val228Met) rs781483544 0.00001
NM_053025.4(MYLK):c.706G>A (p.Val236Met) rs923797303 0.00001
NM_053025.4(MYLK):c.*1031C>A rs886057843
NM_053025.4(MYLK):c.*1040G>A rs2057289816
NM_053025.4(MYLK):c.*1041G>T rs886057842
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.*1176del rs34709307
NM_053025.4(MYLK):c.*1210T>C rs886057841
NM_053025.4(MYLK):c.*1254GT[4] rs550448371
NM_053025.4(MYLK):c.*1509A>G rs970511770
NM_053025.4(MYLK):c.*1509_*1511dup rs140529334
NM_053025.4(MYLK):c.*1519T>C rs962355860
NM_053025.4(MYLK):c.*1526C>A rs886057840
NM_053025.4(MYLK):c.*1576G>A rs769291281
NM_053025.4(MYLK):c.*1671A>T rs886057838
NM_053025.4(MYLK):c.*246A>G rs886057855
NM_053025.4(MYLK):c.*252T>C rs886057854
NM_053025.4(MYLK):c.*258G>T rs886057853
NM_053025.4(MYLK):c.*334_*335insAAATGC rs886057852
NM_053025.4(MYLK):c.*416dup rs886057851
NM_053025.4(MYLK):c.*524C>A rs886057850
NM_053025.4(MYLK):c.*54A>G rs2057326753
NM_053025.4(MYLK):c.*712G>A rs886057849
NM_053025.4(MYLK):c.*713C>A rs886057848
NM_053025.4(MYLK):c.*764_*765dup rs11403360
NM_053025.4(MYLK):c.*765dup rs11403360
NM_053025.4(MYLK):c.*76dup rs35930843
NM_053025.4(MYLK):c.*802C>T rs886057847
NM_053025.4(MYLK):c.*812C>A rs886057846
NM_053025.4(MYLK):c.*857_*860dup rs886057845
NM_053025.4(MYLK):c.*981A>G rs1381461900
NM_053025.4(MYLK):c.-130A>C rs886057867
NM_053025.4(MYLK):c.-186+10C>A rs886057868
NM_053025.4(MYLK):c.-24C>T rs553555866
NM_053025.4(MYLK):c.-72C>T rs2700352
NM_053025.4(MYLK):c.1027A>G (p.Ser343Gly) rs2062585123
NM_053025.4(MYLK):c.123C>A (p.Asn41Lys) rs886057866
NM_053025.4(MYLK):c.1297T>C (p.Phe433Leu) rs886057864
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.2564C>T (p.Ala855Val) rs886057863
NM_053025.4(MYLK):c.256C>G (p.Arg86Gly) rs368822172
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) rs368080781
NM_053025.4(MYLK):c.2779G>A (p.Ala927Thr) rs886057862
NM_053025.4(MYLK):c.2829G>T (p.Arg943Ser) rs886057861
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser) rs11558550
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.3565+7C>T rs768638357
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.4054T>C (p.Trp1352Arg) rs886057859
NM_053025.4(MYLK):c.423-8C>T rs751696363
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-4C>T rs376670657
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.5224A>G (p.Arg1742Gly) rs886057858
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347

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