List of variants in gene ACVRL1 reported as likely benign by GeneDx

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1247-195C>T	rs118190956	0.02531
NM_000020.3(ACVRL1):c.1247-230T>C	rs113586490	0.02223
NM_000020.3(ACVRL1):c.*58G>A	rs182368657	0.01817
NM_000020.3(ACVRL1):c.1378-216C>T	rs111710113	0.01212
NM_000020.3(ACVRL1):c.62-69G>T	rs114852790	0.00802
NM_000020.3(ACVRL1):c.625+146C>T	rs116471331	0.00696
NM_000020.3(ACVRL1):c.772+24C>T	rs151169686	0.00421
NM_000020.3(ACVRL1):c.314-100G>A	rs543716448	0.00390
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)	rs139142865	0.00203
NM_000020.3(ACVRL1):c.1247-15A>G	rs186868158	0.00056
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)	rs56379428	0.00011
NM_000020.3(ACVRL1):c.772+6G>A	rs778170281	0.00001
NM_000020.3(ACVRL1):c.1377+249TG[23]	rs55945390
NM_000020.3(ACVRL1):c.1378-248del	rs202089535
NM_000020.3(ACVRL1):c.626-59G>T	rs537246355
NM_000020.3(ACVRL1):c.773-292G>A	rs117087866

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