ClinVar Miner

List of variants studied for capillary malformation by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
ENG, 2-BP DEL, NT1153
ENG, 39-BP DEL, NT882
NM_000020.2(ACVRL1):c.1113_1114insG rs387906394
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.2(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.2(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.2(ACVRL1):c.1378-216C>G rs111710113
NM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000118.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_000118.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2484+1G>T rs927772349
NM_004444.5(EPHB4):c.2484+2dup rs1584653620
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs) rs1562976493
NM_004444.5(EPHB4):c.570dup (p.His191fs) rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs) rs1562973541
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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