ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia 3

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Total variants: 7
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HGVS dbSNP
NM_015915.4(ATL1):c.1068T>A (p.Asn356Lys)
NM_015915.4(ATL1):c.1193C>A (p.Ser398Tyr) rs864622083
NM_015915.4(ATL1):c.1222A>G (p.Met408Val) rs28939094
NM_015915.4(ATL1):c.1511del (p.Gly504fs) rs1566735903
NM_015915.4(ATL1):c.536C>A (p.Ser179Tyr) rs1555364149
NM_015915.4(ATL1):c.594A>C (p.Arg198Ser) rs1555364247
NM_015915.4(ATL1):c.650G>A (p.Arg217Gln) rs119476049

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