ClinVar Miner

List of variants studied for spinocerebellar ataxia, autosomal recessive 23

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_016614.3(TDP2):c.425+1G>A rs372245668 0.00003
NM_016614.3(TDP2):c.97G>T (p.Ala33Ser) rs760554150 0.00001
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter) rs879255601
NM_016614.3(TDP2):c.635_636+2del rs2127617300
NM_016614.3(TDP2):c.650del (p.Gly217fs) rs1778000792
NM_016614.3(TDP2):c.949C>T (p.Arg317Ter) rs142438588

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