ClinVar Miner

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

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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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_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

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