ClinVar Miner

List of variants in gene TECPR2 reported as likely benign for Hereditary spastic paraplegia

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.952-5G>A rs55716270 0.00869
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) rs116185336 0.00363
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_014844.5(TECPR2):c.1260C>T (p.Ser420=) rs147784739 0.00286
NM_014844.5(TECPR2):c.4081+8C>A rs199845217 0.00143
NM_014844.5(TECPR2):c.4089G>A (p.Ala1363=) rs139314486 0.00134
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.3603G>A (p.Thr1201=) rs773460001 0.00001
NM_014844.5(TECPR2):c.*1716G>C rs56232046
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346

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