ClinVar Miner

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

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017

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