ClinVar Miner

List of variants reported as uncertain significance for capillary malformation by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys) rs371413736
NM_016204.4(GDF2):c.252G>A (p.Glu84=)

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