ClinVar Miner

List of variants reported as uncertain significance for anemia by 3billion

Included ClinVar conditions (292):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_000342.4(SLC4A1):c.2002G>A (p.Ala668Thr) rs368353943 0.00002
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu) rs779817999 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_000037.4(ANK1):c.2389-8C>A
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg) rs2149118066
NM_000186.4(CFH):c.672G>T (p.Lys224Asn) rs1408473510
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg) rs2148204121
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter) rs2148198897
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
NM_000298.6(PKLR):c.694+43C>T
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp) rs2148204818
NM_000342.4(SLC4A1):c.1319T>A (p.Leu440Gln) rs2144613306
NM_000365.6(TPI1):c.694G>A (p.Val232Met) rs1555132614
NM_001022.4(RPS19):c.1A>G (p.Met1Val) rs2123255913
NM_001355436.2(SPTB):c.6223G>C (p.Glu2075Gln) rs2139479145
NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_003126.4(SPTA1):c.1007C>T (p.Ser336Leu) rs2101929378
NM_030943.4(AMN):c.149T>C (p.Phe50Ser) rs772475317

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