ClinVar Miner

List of variants in gene SPTA1 reported as likely pathogenic for Familial hemolytic anemia

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)	rs142775522	0.00499
NM_003126.4(SPTA1):c.6600+5G>T	rs1462060431

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