ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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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.*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.-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.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_000118.3(ENG):c.-343C>T rs543301425 0.00020
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
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.*133C>T rs539680928 0.00001
NM_001114753.3(ENG):c.*461AACT[1] rs41514846

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