ClinVar Miner

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

Included ClinVar conditions (258):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
GRCh37/hg19 Xq28(chrX:153138672-153665655)
NG_000007.3:g.63632_71046del7415
NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) rs41469945
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001024858.3(SPTB):c.5794_5798+6delCCCAGGTGAGG rs1555367318
NM_001142446.1(ANK1):c.2047A>G (p.Met683Val) rs1057518790
NM_001145661.1(GATA2):c.971A>G (p.Lys324Arg) rs1480450110
NM_030943.3(AMN):c.149T>C (p.Phe50Ser) rs772475317
NM_030943.3(AMN):c.320_321dup (p.Asp108Leufs) rs1555381324

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