ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia 49, autosomal recessive

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Total variants: 13
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HGVS dbSNP
NC_000014.8:g.(?_102899405_102901470del
NC_000014.9:g.(?_102407328)_(102450659_?)dup
NC_000014.9:g.(?_102465131)_(102465314_?)dup
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) rs765874018
NM_014844.5(TECPR2):c.218_219+15del rs1567314662
NM_014844.5(TECPR2):c.2829del (p.Asn944fs)
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs)
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter)
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter)
NM_014844.5(TECPR2):c.694dup (p.Thr232fs)
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312

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