ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
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.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.984G>A (p.Ser328=) rs115018449 0.00277
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_053025.4(MYLK):c.*1070T>A rs185600011 0.00044
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.5448C>T (p.Arg1816=) rs56262958 0.00032
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.4882G>A (p.Val1628Met) rs76655666 0.00010
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.*1134C>T rs539295972 0.00004
NM_053025.4(MYLK):c.2628C>T (p.Arg876=) rs571744275 0.00002
NM_053025.4(MYLK):c.1314C>T (p.Ser438=) rs200423954 0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=) rs193007255 0.00001
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.*1176del rs34709307
NM_053025.4(MYLK):c.*1509_*1511dup rs140529334
NM_053025.4(MYLK):c.*764_*765dup rs11403360
NM_053025.4(MYLK):c.*765dup rs11403360
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu) rs368325180
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.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-9C>G rs41443051

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