List of variants in gene ACVRL1 reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	rs1592224412
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)	rs1940813766
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)	rs1940836063
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)	rs1940731944
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	rs1057517944
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs)	rs1940958854
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	rs1085307429
NM_000020.3(ACVRL1):c.259del (p.His87fs)	rs1940739463
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter)	rs1592222308
NM_000020.3(ACVRL1):c.375dup (p.Val126fs)	rs1940751760
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)	rs1940756257
NM_000020.3(ACVRL1):c.626-2A>G	rs1940780382

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