List of variants reported as 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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter)	rs753346459	0.00001
NM_001358263.1(HK1):c.75+20308C>T	rs756166032	0.00001
NM_000037.4(ANK1):c.1427_1430dup (p.Ala478fs)	rs2150635518
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter)	rs2150585752
NM_000037.4(ANK1):c.4541del (p.Tyr1514fs)	rs2150563560
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter)	rs2144601154
NM_001355436.2(SPTB):c.1024C>T (p.Gln342Ter)	rs2139621075
NM_001355436.2(SPTB):c.2278C>T (p.Gln760Ter)	rs2139594261
NM_001355436.2(SPTB):c.2647del (p.Leu883fs)	rs2139592237
NM_001355436.2(SPTB):c.3106dup (p.Gln1036fs)	rs2139567892
NM_001355436.2(SPTB):c.3936G>A (p.Trp1312Ter)	rs2139555500
NM_001355436.2(SPTB):c.4842+1G>C	rs2139513700
NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)	rs1969582489
NM_003126.4(SPTA1):c.3477+1G>C	rs2101857591

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.