ClinVar Miner

List of variants studied for Elliptocytosis 3; Hereditary spherocytosis type 2

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001355436.2(SPTB):c.3764+9G>A rs150423485 0.00537
NM_001355436.2(SPTB):c.4474-17C>T rs192115079 0.00061
NM_001355436.2(SPTB):c.3764+8C>T rs200257205 0.00005
NM_001355436.2(SPTB):c.1509G>C (p.Lys503Asn)
NM_001355436.2(SPTB):c.2593G>A (p.Gly865Arg)
NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)
NM_001355436.2(SPTB):c.6351AGA[1] (p.Glu2119del) rs750154106
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769

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