ClinVar Miner

List of variants in gene ENG reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 40
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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.219+25G>T rs7847860 0.06245
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.360+21C>T rs41355248 0.01861
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.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) rs142803546 0.00026
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_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786 0.00004
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe) rs767850408 0.00002
NM_001114753.3(ENG):c.990C>T (p.Cys330=) rs369202854 0.00002
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.684G>A (p.Ser228=) rs368752783 0.00001
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr)
NM_001114753.3(ENG):c.1845G>T (p.Ser615=) rs759950184
NM_001114753.3(ENG):c.1852+37C>A
NM_001114753.3(ENG):c.1852+51C>G rs373626498
NM_001114753.3(ENG):c.1853-8_1853-3del
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
NM_001114753.3(ENG):c.219+2T>A
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr) rs902721446
NM_001114753.3(ENG):c.642C>G (p.Gly214=)
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) rs1830569895
NM_001114753.3(ENG):c.891A>G (p.Gln297=)

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