List of variants in gene ACVRL1 studied for Telangiectasia, hereditary hemorrhagic, type 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.*45del	rs761647766
NM_000020.3(ACVRL1):c.*856dup	rs544534093
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	rs1555152440
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	rs1555153354
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	rs1057517944
NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro)	rs863223414
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	rs1555152966

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