ClinVar Miner

List of variants studied for Spongy degeneration of central nervous system by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.309dup (p.Asp104fs) rs1209227358
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074

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