ClinVar Miner

List of variants studied for capillary malformation by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr) rs139154868 0.00003
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698

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