List of variants reported as likely pathogenic for hematologic disorder by UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

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_001114134.2(EPB42):c.832G>C (p.Val278Leu)	rs772330879	0.00001
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	rs1935671225
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	rs2146715075
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)	rs2132884703
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)	rs1674554041
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	rs121912741
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)	rs2142314789

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.