List of variants reported as benign for Fanconi anemia complementation group A by Illumina Laboratory Services, Illumina

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: 41

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.710-12A>G	rs1800286	0.71452
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)	rs7190823	0.52564
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	rs2239359	0.51262
NM_000135.4(FANCA):c.1826+15T>C	rs1800337	0.51138
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	rs7195066	0.46389
NM_000135.4(FANCA):c.2151+8T>C	rs1800340	0.40536
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)	rs1800358	0.12784
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)	rs11649210	0.11105
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)	rs1800331	0.06866
NM_000135.4(FANCA):c.17T>A (p.Val6Asp)	rs1800282	0.06490
NM_000135.4(FANCA):c.894-8A>G	rs11648881	0.06110
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)	rs17232910	0.05919
NM_000135.4(FANCA):c.2779-7T>C	rs17233253	0.05872
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)	rs17226980	0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	rs9282681	0.05868
NM_000135.4(FANCA):c.3067-4T>C	rs17227064	0.05860
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)	rs11646374	0.05837
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	rs17233497	0.05303
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	rs76275444	0.04436
NM_000135.4(FANCA):c.*986G>A	rs16966023	0.04351
NM_000135.4(FANCA):c.*673A>G	rs62704561	0.03426
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)	rs17232917	0.03300
NM_000135.4(FANCA):c.*252G>C	rs17233797	0.03296
NM_000135.4(FANCA):c.1360-7C>T	rs17232616	0.03003
NM_000135.4(FANCA):c.*385C>G	rs17227424	0.02929
NM_000135.4(FANCA):c.*287G>A	rs17227417	0.02259
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	rs1131660	0.02234
NM_000135.4(FANCA):c.*670G>T	rs17233812	0.01850
NM_000135.4(FANCA):c.*1011C>T	rs17227452	0.01670
NM_000135.4(FANCA):c.*679T>G	rs17233833	0.01627
NM_000135.4(FANCA):c.3935-9G>A	rs9282680	0.01028
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)	rs34592408	0.00601
NM_000135.4(FANCA):c.1359+10C>T	rs34159559	0.00557
NM_000135.4(FANCA):c.1826+12C>T	rs183513839	0.00518
NM_000135.4(FANCA):c.21G>T (p.Pro7=)	rs115856189	0.00509
NM_000135.4(FANCA):c.903G>T (p.Val301=)	rs56062548	0.00432
NM_000135.4(FANCA):c.115A>C (p.Arg39=)	rs17232091	0.00116
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)	rs149531696	0.00072
NM_000135.4(FANCA):c.*286C>T	rs17233804	0.00019
NM_000135.4(FANCA):c.*154G>A	rs1230
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	rs1800332

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.