ClinVar Miner

List of variants in gene combination ENG, LOC102723566 reported as likely pathogenic for capillary malformation

Included ClinVar conditions (18):
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.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) rs2131879350
NM_001114753.3(ENG):c.1153del (p.Thr385fs) rs2131879343
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) rs1554809516
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) rs1830432884
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) rs1830432509
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
NM_001114753.3(ENG):c.1311+5G>A rs1830423993
NM_001114753.3(ENG):c.1311+5G>C rs1830423993
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312-1G>C rs2131877148
NM_001114753.3(ENG):c.1429-23_1429-1del
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter) rs1197761705
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro) rs1830384577
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) rs778594104
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) rs2131875808
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) rs1830376644
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1686+5G>A rs1830374353
NM_001114753.3(ENG):c.1687-1G>A rs1554809106

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