ClinVar Miner

List of variants reported as pathogenic for hematologic disorder by Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.4105A>G (p.Lys1369Glu) rs760803657 0.00011
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_000037.4(ANK1):c.1305+1G>A
NM_000037.4(ANK1):c.1365T>G (p.Tyr455Ter)
NM_000037.4(ANK1):c.1602+1G>C
NM_000037.4(ANK1):c.2098-1G>T rs2150612992
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs) rs2150605978
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter) rs2150597061
NM_000037.4(ANK1):c.319C>T (p.Gln107Ter)
NM_000037.4(ANK1):c.3504_3514del (p.Ser1169fs)
NM_000037.4(ANK1):c.3629+1G>C
NM_000037.4(ANK1):c.3639_3649dup (p.Pro1217fs)
NM_000037.4(ANK1):c.4057C>T (p.Gln1353Ter) rs2150585752
NM_000037.4(ANK1):c.4157dup (p.Tyr1386Ter)
NM_000037.4(ANK1):c.4204C>T (p.Gln1402Ter)
NM_000037.4(ANK1):c.4414C>T (p.Gln1472Ter) rs1228535558
NM_000037.4(ANK1):c.4819_4820del (p.Ser1607fs)
NM_000037.4(ANK1):c.5071C>T (p.Gln1691Ter)
NM_000037.4(ANK1):c.5192C>G (p.Ser1731Ter)
NM_000037.4(ANK1):c.886del (p.Ala296fs)
NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs) rs2047398183
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His) rs866727908
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr) rs143682977
NM_001355436.2(SPTB):c.151G>T (p.Glu51Ter)
NM_001355436.2(SPTB):c.1591C>T (p.Gln531Ter)
NM_001355436.2(SPTB):c.1630dup (p.Met544fs)
NM_001355436.2(SPTB):c.2092del (p.Gln698fs)
NM_001355436.2(SPTB):c.2165C>A (p.Ser722Ter)
NM_001355436.2(SPTB):c.2423del (p.Gly808fs)
NM_001355436.2(SPTB):c.2521C>T (p.Gln841Ter)
NM_001355436.2(SPTB):c.2659C>T (p.Gln887Ter)
NM_001355436.2(SPTB):c.3351C>A (p.Tyr1117Ter)
NM_001355436.2(SPTB):c.3841C>T (p.Gln1281Ter)
NM_001355436.2(SPTB):c.3855+1G>A
NM_001355436.2(SPTB):c.3986_4001del (p.Leu1329fs)
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.4368del (p.Ile1456fs)
NM_001355436.2(SPTB):c.4417C>T (p.Gln1473Ter)
NM_001355436.2(SPTB):c.467G>C (p.Arg156Pro)
NM_001355436.2(SPTB):c.472C>T (p.Gln158Ter)
NM_001355436.2(SPTB):c.4873C>T (p.Arg1625Ter) rs2139511447
NM_001355436.2(SPTB):c.493C>T (p.Gln165Ter)
NM_001355436.2(SPTB):c.4942C>T (p.Gln1648Ter)
NM_001355436.2(SPTB):c.4969G>T (p.Glu1657Ter)
NM_001355436.2(SPTB):c.5099del (p.Asp1700fs)
NM_001355436.2(SPTB):c.5464G>T (p.Glu1822Ter)
NM_001355436.2(SPTB):c.5737dup (p.Arg1913fs)
NM_001355436.2(SPTB):c.5788G>T (p.Glu1930Ter)
NM_001355436.2(SPTB):c.6059_6060del (p.Val2020fs)
NM_001355436.2(SPTB):c.6536_6537del (p.Val2179fs)
NM_001355436.2(SPTB):c.85G>T (p.Glu29Ter)
NM_001355436.2(SPTB):c.999_1000del (p.Leu334fs)
NM_003126.4(SPTA1):c.27del (p.Val10fs)
NM_003126.4(SPTA1):c.4443-1G>A
NM_003126.4(SPTA1):c.660T>A (p.Tyr220Ter) rs2101942740

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.