ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.315+1G>A rs33945777
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_014646.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_018081.2(WRAP53):c.1118del (p.Leu373fs)

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