List of variants in gene ACVRL1 reported as uncertain significance 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)	rs146206499	0.00031
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)	rs150038846	0.00013
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)	rs139380315	0.00011
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)	rs369146413	0.00006
NM_000020.3(ACVRL1):c.196C>T (p.His66Tyr)	rs1480110873	0.00002
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn)	rs369436815	0.00002
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)	rs1283365095	0.00001
NM_000020.3(ACVRL1):c.253G>A (p.Val85Ile)	rs373779426	0.00001
NM_000020.3(ACVRL1):c.1003A>C (p.Asn335His)	rs2139073985
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)	rs1592224431
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)	rs1085307421
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)	rs2139084385
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys)	rs1060503243
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)	rs1057523573
NM_000020.3(ACVRL1):c.225G>C (p.Glu75Asp)	rs1940737426
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp)	rs1430932447
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)	rs1060503234
NM_000020.3(ACVRL1):c.526-6C>G	rs1438077609
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)	rs1555152790
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)	rs1555152796
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)	rs754283265
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)	rs768643771
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)	rs1060503244
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)	rs863223411
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)	rs1940810597
NM_000020.3(ACVRL1):c.982C>G (p.His328Asp)	rs1592224291

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