ClinVar Miner

List of variants in gene RAPSN reported as likely benign for Congenital myasthenic syndrome

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00062
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00059
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446

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