ClinVar Miner

List of variants reported as likely pathogenic for Spongy degeneration of central nervous system by Baylor Genetics

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Total variants: 7
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NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149

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