List of variants in gene RPSA studied for Familial isolated congenital asplenia

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_002295.6(RPSA):c.-8T>C	rs1803893	0.50177
NM_002295.6(RPSA):c.134-32C>T	rs3772138	0.26547
NM_002295.6(RPSA):c.519G>A (p.Leu173=)	rs2269350	0.26529
NM_002295.6(RPSA):c.498+8T>A	rs754699583	0.00003
NM_002295.6(RPSA):c.161C>A (p.Thr54Asn)	rs397514762
NM_002295.6(RPSA):c.172C>T (p.Leu58Phe)	rs397514763
NM_002295.6(RPSA):c.25C>T (p.Gln9Ter)	rs397514759
NM_002295.6(RPSA):c.491A>T (p.Asn164Ile)
NM_002295.6(RPSA):c.508T>G (p.Ser170Ala)
NM_002295.6(RPSA):c.538C>G (p.Arg180Gly)	rs397514760
NM_002295.6(RPSA):c.538C>T (p.Arg180Trp)	rs397514760
NM_002295.6(RPSA):c.556C>T (p.Arg186Cys)	rs397514761
NM_002295.6(RPSA):c.590_594dup (p.Pro199fs)	rs398122389

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