ClinVar Miner

List of variants in gene ENG reported as likely pathogenic for capillary malformation

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.-58G>A rs971268057 0.00001
NM_001114753.3(ENG):c.706G>A (p.Val236Met) rs754136153 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NC_000009.11:g.(?_130578190)_(130592112_?)dup
NC_000009.11:g.(?_130586563)_(130592126_?)dup
NC_000009.11:g.(?_130586573)_(130592116_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)dup
NC_000009.11:g.(?_130605373)_(130605524_?)dup
NC_000009.12:g.(?_127824284)_(127824994_?)del
NC_000009.12:g.(?_127824284)_(127829847_?)del
NC_000009.12:g.(?_127824294)_(127825367_?)dup
NC_000009.12:g.(?_127824294)_(127826683_?)del
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter) rs1446116085
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly) rs2131885848
NM_001114753.3(ENG):c.111del (p.Glu38fs) rs2539107590
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.146T>A (p.Val49Asp) rs2539107437
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.219+5G>A rs1554812252
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter) rs730880096
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.296T>A (p.Leu99His) rs2131895111
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.361-11T>A rs2539078181
NM_001114753.3(ENG):c.408del (p.Glu137fs) rs1554810506
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu) rs1830619692
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del) rs1554810408
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr) rs1830599119
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) rs1830599119
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.65_67+19del rs2539126206
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.679_689+7del rs2539075688
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.763G>C (p.Gly255Arg)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys) rs1830580925
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs) rs1588581846
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) rs1085307431
NM_001114753.3(ENG):c.816+1G>A rs111471193
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) rs12042
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895C>G (p.Leu299Val) rs2539073045
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr) rs2539107670
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile) rs779815395
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs) rs2539072755
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg) rs760001916
NM_001114753.3(ENG):c.987C>G (p.Ser329Arg)
NM_001114753.3(ENG):c.991+2T>A rs1564455554
NM_001114753.3(ENG):c.991+4A>G rs2131886797
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-49_1046del rs2539071106

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