ClinVar Miner

List of variants reported as benign for capillary malformation by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.313+11C>T	rs2071218	0.45979
NM_000020.3(ACVRL1):c.747G>A (p.Val249=)	rs1058563	0.03904
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	rs139142865	0.00203

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