ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001114753.3(ENG):c.1852+52G>C rs371104611 0.00083
NM_001114753.3(ENG):c.*491C>T rs190129922 0.00081
NM_001114753.3(ENG):c.-289A>T rs538284289 0.00081
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.1853-27C>T rs376579767 0.00043
NM_001114753.3(ENG):c.*449C>G rs529337078 0.00042
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
NM_001114753.3(ENG):c.*523A>G rs72616667 0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_000118.3(ENG):c.-343C>T rs543301425 0.00020
NM_001114753.3(ENG):c.-246T>C rs886063478 0.00020
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.-188G>A rs961480381 0.00017
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_001114753.3(ENG):c.-227C>G rs955866378 0.00013
NM_001114753.3(ENG):c.*266G>A rs764451017 0.00010
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_001114753.3(ENG):c.*273A>C rs138178682 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.*492G>A rs148192743 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.*558A>G rs143099696 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) rs121918402 0.00006
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
NM_001114753.3(ENG):c.1853-9C>T rs368472273 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.900G>A (p.Leu300=) rs140155568 0.00003
NM_001114753.3(ENG):c.*4C>T rs775604819 0.00002
NM_001114753.3(ENG):c.-23G>A rs1311087483 0.00002
NM_001114753.3(ENG):c.-59C>T rs1003149967 0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) rs745843047 0.00002
NM_001114753.3(ENG):c.361-12_361-11del rs781079790 0.00002
NM_001114753.3(ENG):c.*109C>T rs553180494 0.00001
NM_001114753.3(ENG):c.*133C>T rs539680928 0.00001
NM_001114753.3(ENG):c.*150C>A rs886063475 0.00001
NM_001114753.3(ENG):c.*252C>A rs886063474 0.00001
NM_001114753.3(ENG):c.*438G>A rs1830275627 0.00001
NM_001114753.3(ENG):c.*534C>T rs893984357 0.00001
NM_001114753.3(ENG):c.*586C>T rs1045413208 0.00001
NM_001114753.3(ENG):c.-249C>A rs914868382 0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=) rs755626994 0.00001
NM_001114753.3(ENG):c.1853-18C>T rs908692674 0.00001
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A rs1011392059
NM_000118.3(ENG):c.-395C>A rs886063479
NM_001114753.3(ENG):c.*320G>A rs41478248
NM_001114753.3(ENG):c.*391G>A rs1830277239
NM_001114753.3(ENG):c.*424G>C rs1482022005
NM_001114753.3(ENG):c.*461AACT[1] rs41514846
NM_001114753.3(ENG):c.*530T>A rs1830273682
NM_001114753.3(ENG):c.*533G>A rs1830273631
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.-289A>C rs538284289
NM_001114753.3(ENG):c.-70del rs886063477
NM_001114753.3(ENG):c.-90G>C rs768083796
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr) rs138190783
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe) rs747196026
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_001114753.3(ENG):c.1852+51C>G rs373626498
NM_001114753.3(ENG):c.219G>T (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) rs143779963
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464

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