ClinVar Miner

List of variants in gene EPHB4, SLC12A9 studied for capillary malformation

Included ClinVar conditions (17):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004444.5(EPHB4):c.1A>G (p.Met1Val)	rs2116474071
NM_004444.5(EPHB4):c.27_33dup (p.Leu12fs)
NM_004444.5(EPHB4):c.33del (p.Leu12fs)	rs1562976493
NM_004444.5(EPHB4):c.52+14C>G	rs2304374

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