List of variants reported as pathogenic for inherited aplastic anemia by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 64

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_001018115.3(FANCD2):c.2715+1G>A	rs201811817	0.00016
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	rs121917783	0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00006
NM_000135.4(FANCA):c.1827-1G>A	rs555449842	0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	rs769479800	0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln)	rs766567785	0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	rs775076977	0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	rs752309409	0.00004
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)	rs374334794	0.00003
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	rs781542763	0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	rs377294947	0.00002
NM_004629.2(FANCG):c.1480+1G>C	rs149616199	0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=)	rs577063114	0.00002
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)	rs80358695	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	0.00001
NM_000136.3(FANCC):c.844-1G>C	rs774209201	0.00001
NM_001018115.3(FANCD2):c.1948-6C>A	rs779350241	0.00001
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)	rs369022159	0.00001
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)	rs121917786	0.00001
NM_032444.4(SLX4):c.2808_2809del (p.Ala938fs)	rs767631456	0.00001
NC_000011.9:g.(?_22644078)_(22647388_?)del
NC_000016.9:g.(89806508_89807211)_(89816311_89818545)del
NC_000016.9:g.(89806508_89807211)_(89851373_89857810)del
NC_000016.9:g.(89807275_89809207)_(89851373_89857810)del
NC_000016.9:g.(89828431_89831297)_(89839793_89842149)del
NC_000016.9:g.(89828431_89831297)_(89851373_89857810)del
NC_000016.9:g.(89846366_89849266)_(89849511_89851261)del
NC_000016.9:g.(89846366_89849266)_(89871801_89874701)del
NC_000016.9:g.(89871801_89874701)_(89877480_89880927)del
NC_000016.9:g.(89877480_89880927)_(89883066_?)del
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)	rs2039844441
NM_000135.4(FANCA):c.2571C>A (p.Cys857Ter)
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	rs545772434
NM_000135.4(FANCA):c.3494T>G (p.Leu1165Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	rs794726660
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)	rs199599393
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)	rs758528624
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	rs1035139114
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	rs587779904
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)	rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)	rs757418016
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)	rs1829130135
NM_004629.2(FANCG):c.336del (p.Arg113fs)	rs2131058595
NM_018062.4(FANCL):c.28del (p.Arg10fs)
NM_021922.3(FANCE):c.339del (p.Leu114fs)
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)	rs775735278
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032444.4(SLX4):c.100C>T (p.Gln34Ter)

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.