ClinVar Miner

List of variants in gene ACVRL1 studied for hemophilia A

Included ClinVar conditions (4):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)	rs1940905575
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	rs1085307429

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