ClinVar Miner

List of variants studied for anemia (disease) by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (258):
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ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437
NM_000298.5(PKLR):c.1379T>C (p.Val460Ala) rs149946271
NM_000324.2(RHAG):c.808G>A (p.Val270Ile) rs16879498
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001113378.1(FANCI):c.158-2A>G rs762128147
NM_001143990.1(WRAP53):c.1564delG (p.Ala522Argfs) rs755116516
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440
NM_015506.2(MMACHC):c.616C>T (p.Arg206Trp) rs538023671

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