ClinVar Miner

List of variants studied for anemia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys) rs121918221 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000037.4(ANK1):c.2389-10C>T rs764935260 0.00010
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr) rs776039915 0.00005
NM_006363.6(SEC23B):c.689+1G>A rs398124226 0.00003
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_032444.4(SLX4):c.3127G>A (p.Gly1043Arg) rs776060270 0.00002
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243 0.00001
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe) rs1554835099 0.00001
NM_000254.3(MTR):c.2474-1G>C rs757963570 0.00001
NM_003126.4(SPTA1):c.2320C>T (p.Arg774Ter) rs751026146 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe) rs1375911072 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032638.5(GATA2):c.971A>G (p.Lys324Arg) rs1480450110 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
NC_000011.10:g.5226570_5233984del
NM_000037.4(ANK1):c.1948A>G (p.Met650Val) rs1057518790
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter) rs774067157
NM_000254.3(MTR):c.610-1G>T rs1661544157
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His) rs2047407019
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001355436.2(SPTB):c.5794_5798+6del rs1555367318
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu) rs1057518975
NM_003126.4(SPTA1):c.2805+7T>G rs1652909073
NM_003126.4(SPTA1):c.5433-132G>A rs1650943500
NM_006363.6(SEC23B):c.436G>A (p.Ala146Thr) rs2060116077
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly) rs761034212
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.4(AMN):c.320_321dup (p.Asp108fs) rs1555381324
NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly) rs1057518847
NM_058216.3(RAD51C):c.1028C>G (p.Pro343Arg) rs2049559202
NM_058216.3(RAD51C):c.572-1G>C rs1413872299
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys) rs750995691

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.