List of variants in gene ACVRL1 reported as pathogenic for not specified

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	rs121909288	0.00001
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)	rs1085307415
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	rs863223408
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	rs1555152520
NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	rs1555152526
NM_000020.3(ACVRL1):c.525+1G>A	rs1555152710
NM_000020.3(ACVRL1):c.626-3C>G	rs1555152899
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)	rs387906391
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)	rs762773076
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)	rs1555152955

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