ClinVar Miner

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

Included ClinVar conditions (281):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly) rs182512508 0.00086
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr) rs104894487 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_001014.5(RPS10):c.322+2_322+4dup rs1554164160
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter) rs200386310

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