List of variants in gene FGA reported as uncertain significance for congenital afibrinogenemia

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: 36

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)	rs200378626	0.00048
NM_021871.4(FGA):c.244A>C (p.Thr82Pro)	rs199554805	0.00031
NM_021871.4(FGA):c.616C>G (p.Gln206Glu)	rs560732073	0.00019
NM_021871.4(FGA):c.*50T>G	rs369606098	0.00010
NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	rs201105899	0.00007
NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	rs370873387	0.00006
NM_021871.4(FGA):c.1838A>G (p.His613Arg)	rs201686865	0.00004
NM_021871.4(FGA):c.765G>A (p.Pro255=)	rs779582722	0.00004
NM_021871.4(FGA):c.923G>A (p.Arg308Gln)	rs760992799	0.00004
NM_021871.4(FGA):c.1718G>A (p.Arg573His)	rs78506343	0.00003
NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)	rs199571440	0.00002
NM_021871.4(FGA):c.450G>A (p.Gln150=)	rs368446857	0.00002
NM_021871.4(FGA):c.8C>T (p.Ser3Phe)	rs771156473	0.00002
NM_000508.5(FGA):c.2527T>C (p.Trp843Arg)	rs1280924091	0.00001
NM_021871.4(FGA):c.1025G>A (p.Gly342Glu)	rs774664670	0.00001
NM_021871.4(FGA):c.1463G>A (p.Gly488Asp)	rs1382669489	0.00001
NM_021871.4(FGA):c.1470C>G (p.Asp490Glu)	rs1335171406	0.00001
NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)	rs771429165	0.00001
NM_021871.4(FGA):c.1915A>G (p.Lys639Glu)	rs1424019951	0.00001
NM_021871.4(FGA):c.346G>A (p.Asp116Asn)	rs886059153	0.00001
NM_021871.4(FGA):c.822C>T (p.Ser274=)	rs886059150	0.00001
NM_021871.4(FGA):c.919A>G (p.Asn307Asp)	rs750564329	0.00001
NM_000508.5(FGA):c.2021T>C (p.Leu674Ser)	rs2110806407
NM_000508.5(FGA):c.2024T>C (p.Ile675Thr)	rs2110806390
NM_000508.5(FGA):c.2024T>G (p.Ile675Ser)	rs2110806390
NM_000508.5(FGA):c.2128G>A (p.Gly710Ser)	rs2110806103
NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)	rs148824832
NM_000508.5(FGA):c.2372A>T (p.Asp791Val)	rs1479874554
NM_021871.4(FGA):c.*133G>A	rs182736373
NM_021871.4(FGA):c.1207G>A (p.Ala403Thr)	rs1730710209
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)	rs2110809573
NM_021871.4(FGA):c.1930C>G (p.Pro644Ala)	rs1730682953
NM_021871.4(FGA):c.364+5G>A	rs891744509
NM_021871.4(FGA):c.614A>G (p.Glu205Gly)	rs886059152
NM_021871.4(FGA):c.666A>T (p.Pro222=)	rs886059151
NM_021871.4(FGA):c.829T>C (p.Tyr277His)	rs1473392017

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.