ClinVar Miner

List of variants studied for anemia by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) rs11549407 0.00026
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000518.5(HBB):c.92+6T>C rs35724775 0.00007
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000518.5(HBB):c.*110T>C rs33978907 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NC_000011.10:g.5227172G>A rs63751208 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000518.5(HBB):c.316-106C>G rs34690599 0.00003
NM_000518.5(HBB):c.20del (p.Glu7fs) rs63749819 0.00002
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000518.5(HBB):c.*111A>G rs63751128 0.00001
NM_018062.4(FANCL):c.2T>C (p.Met1Thr) rs761291501 0.00001
GRCh37/hg19 16q24.3(chr16:89818649-89883044)
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs) rs863224827
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer) rs1363946483
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) rs2148218886
NM_000518.5(HBB):c.17_18del (p.Pro6fs) rs34889882
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_001029.5(RPS26):c.181+1del rs1895903499
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val) rs2151019295
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr) rs2151019809
NM_001355436.2(SPTB):c.4267C>T (p.Arg1423Ter) rs1594767593
NM_001355436.2(SPTB):c.5114G>A (p.Trp1705Ter)
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr) rs2146057214
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)

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