ClinVar Miner

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

Included ClinVar conditions (263):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000489.5(ATRX):c.5968_5970TCT[2] (p.Ser1992del) rs782391479
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser)
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu)
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340
NM_001159287.1(TPI1):c.728G>A (p.Arg243His) rs782417309
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382
NM_004629.1(FANCG):c.84+53G>T rs1563987651
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_016434.3(RTEL1):c.2627_2629AGA[1] (p.Lys877del) rs1555812473
NM_203330.2(CD59):c.85T>G (p.Tyr29Asp) rs1564972905

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