List of variants reported as pathogenic for hematologic disorder by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter)	rs782429199
NM_000061.3(BTK):c.126T>A (p.Tyr42Ter)	rs2147448164
NM_000061.3(BTK):c.1632-2A>T	rs886039555
NM_000061.3(BTK):c.164dup (p.Ile56fs)	rs2147447605
NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	rs2147431031
NM_000061.3(BTK):c.998A>G (p.His333Arg)	rs193922133

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.