Variants in gene ACVRL1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)	rs1085307416
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)	rs2139084385
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro)	rs1295923763
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)	rs2139065261
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)	rs754283265
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)	rs762773076
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)	rs1592223490
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)	rs1940810597

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