List of variants in gene ACVRL1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.666C>T (p.His222=)	rs377194545	0.00034
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)	rs375679140	0.00021
NM_000020.3(ACVRL1):c.1377+785G>A	rs568206326	0.00003
NM_000020.3(ACVRL1):c.1378-417C>T	rs1038380207	0.00002
NM_000020.3(ACVRL1):c.1378-368T>C	rs1940945149	0.00001
NM_000020.3(ACVRL1):c.*45del	rs761647766
NM_000020.3(ACVRL1):c.1377+55T>C
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=)	rs148975811

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