List of variants reported as pathogenic for Familial isolated congenital asplenia by OMIM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
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.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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