List of variants reported as benign for anemia, congenital dyserythropoietic, type 1a

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_138477.4(CDAN1):c.3474A>C (p.Leu1158=)	rs16957091	0.41429
NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu)	rs4265781	0.41423
NM_138477.4(CDAN1):c.1787A>G (p.Gln596Arg)	rs12917189	0.40225
NM_138477.4(CDAN1):c.2352+8C>T	rs12594483	0.34139
NM_138477.4(CDAN1):c.477C>T (p.Pro159=)	rs7167392	0.26335
NM_138477.4(CDAN1):c.2671C>T (p.Arg891Cys)	rs8023524	0.25780
NM_138477.4(CDAN1):c.2408-3C>T	rs12905385	0.24113
NM_138477.4(CDAN1):c.3153G>A (p.Glu1051=)	rs28661826	0.06415
NM_138477.4(CDAN1):c.3450+11C>T	rs56046122	0.06311
NM_138477.4(CDAN1):c.816C>A (p.Thr272=)	rs76599133	0.06184
NM_138477.4(CDAN1):c.443C>T (p.Ala148Val)	rs73410959	0.06134
NM_138477.4(CDAN1):c.558C>G (p.Pro186=)	rs12594325	0.05980
NM_138477.4(CDAN1):c.2174+20G>A	rs75993383	0.02307
NM_138477.4(CDAN1):c.1969G>A (p.Gly657Ser)	rs61747153	0.02138
NM_138477.4(CDAN1):c.2948-13C>T	rs117946783	0.02118
NM_138477.4(CDAN1):c.157C>T (p.Leu53=)	rs186189866	0.01218
NM_138477.4(CDAN1):c.1968C>T (p.Thr656=)	rs61742992	0.01147
NM_138477.4(CDAN1):c.2445C>T (p.Gly815=)	rs114208791	0.01142
NM_138477.4(CDAN1):c.2700G>A (p.Gln900=)	rs61745640	0.00622
NM_138477.4(CDAN1):c.906G>A (p.Leu302=)	rs61745955	0.00486
NM_138477.4(CDAN1):c.309G>T (p.Pro103=)	rs575562332	0.00350
NM_138477.4(CDAN1):c.3666T>C (p.Thr1222=)	rs77191722	0.00309
NM_138477.4(CDAN1):c.2542-4C>G	rs147426809	0.00225
NM_138477.4(CDAN1):c.386G>A (p.Arg129His)	rs12441516	0.00155
NM_138477.4(CDAN1):c.3524G>A (p.Cys1175Tyr)	rs192268080	0.00024

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.