ClinVar Miner

List of variants studied for familial hemolytic anemia by GenomeConnect, ClinGen

Included ClinVar conditions (77):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000324.3(RHAG):c.808G>A (p.Val270Ile) rs16879498 0.04007
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro) rs199764020 0.00005
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543 0.00004
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val) rs2139530241

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