List of variants reported as pathogenic for anemia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.92+5G>C	rs33915217	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)	rs2150593157
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter)	rs771755125
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_018062.4(FANCL):c.746_756del (p.Pro249fs)	rs2104799800
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)	rs2104799592

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.