ClinVar Miner

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

Included ClinVar conditions (281):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr) rs137852304 0.00001
NM_000136.3(FANCC):c.166-2A>G rs587777945 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.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_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.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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