ClinVar Miner

List of variants in gene RPSA reported as uncertain significance for Familial isolated congenital asplenia

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_002295.6(RPSA):c.498+8T>A	rs754699583	0.00003
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
NM_002295.6(RPSA):c.508T>G (p.Ser170Ala)

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