List of variants in gene SPTB reported as likely pathogenic for Elliptocytosis 3; Hereditary spherocytosis type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.3114delinsAAACAT (p.His1038fs)
NM_001355436.2(SPTB):c.3352C>T (p.Gln1118Ter)
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)	rs1555371769

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