ClinVar Miner

List of variants studied 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: 35
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
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_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 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_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
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_000611.6(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp) rs1564972905
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136

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