ClinVar Miner

List of variants in gene TECPR2 reported as pathogenic for hereditary spastic paraplegia 49

Included ClinVar conditions (1):
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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) rs765874018 0.00001
NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter) rs765880201 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NC_000014.8:g.(?_102843049)_(102931651_?)del
NC_000014.8:g.(?_102843059)_(102964594_?)del
NC_000014.8:g.(?_102880963)_(102894729_?)del
NC_000014.8:g.(?_102891306)_(102901558_?)del
NC_000014.8:g.(?_102894567)_(102898485_?)del
NC_000014.8:g.(?_102894577)_(102894729_?)del
NC_000014.8:g.(?_102931468)_(102931651_?)del
NC_000014.9:g.(?_102376712)_(102376950_?)del
NM_014844.4(TECPR2):c.222delG rs1567327482
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.1083del (p.Thr361_Val362insTer)
NM_014844.5(TECPR2):c.1152del (p.Ala386fs) rs2139726694
NM_014844.5(TECPR2):c.1160_1161del (p.Thr387fs) rs1213755599
NM_014844.5(TECPR2):c.1191del (p.Met398fs)
NM_014844.5(TECPR2):c.1328_1329del (p.Arg443fs)
NM_014844.5(TECPR2):c.1360C>T (p.Gln454Ter)
NM_014844.5(TECPR2):c.1470_1471insT (p.Glu491Ter)
NM_014844.5(TECPR2):c.1529_1557dup (p.Ser520delinsValSerTrpAlaValAlaTrpIleSerTer)
NM_014844.5(TECPR2):c.1534del (p.Leu512fs)
NM_014844.5(TECPR2):c.1568del (p.Ser523fs) rs1555451465
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) rs1345546964
NM_014844.5(TECPR2):c.1779del (p.Asp593fs)
NM_014844.5(TECPR2):c.1834_1835del (p.Gln612fs) rs2139731066
NM_014844.5(TECPR2):c.1855del (p.Asp619fs)
NM_014844.5(TECPR2):c.190del (p.Leu64fs)
NM_014844.5(TECPR2):c.1913del (p.Thr638fs)
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
NM_014844.5(TECPR2):c.2093G>A (p.Trp698Ter) rs2139731631
NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs) rs1889618137
NM_014844.5(TECPR2):c.2224C>T (p.Gln742Ter)
NM_014844.5(TECPR2):c.2374_2377del (p.Gly792fs)
NM_014844.5(TECPR2):c.2532G>A (p.Trp844Ter)
NM_014844.5(TECPR2):c.2554C>T (p.Gln852Ter)
NM_014844.5(TECPR2):c.2599G>T (p.Glu867Ter) rs200843101
NM_014844.5(TECPR2):c.25dup (p.Thr9fs) rs1486136461
NM_014844.5(TECPR2):c.2649del (p.Lys884fs)
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) rs1889895576
NM_014844.5(TECPR2):c.2915G>A (p.Trp972Ter) rs2139743890
NM_014844.5(TECPR2):c.2955del (p.Val986fs)
NM_014844.5(TECPR2):c.2988_2989del (p.Trp997fs) rs2139746567
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)
NM_014844.5(TECPR2):c.3246_3247del (p.Val1083fs)
NM_014844.5(TECPR2):c.3326G>A (p.Trp1109Ter) rs2139752366
NM_014844.5(TECPR2):c.3332_3333del (p.His1111fs)
NM_014844.5(TECPR2):c.3396del (p.Thr1133fs) rs2139752512
NM_014844.5(TECPR2):c.3460C>T (p.Gln1154Ter)
NM_014844.5(TECPR2):c.3469_3470del (p.Gln1157fs) rs2139755178
NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter) rs2139656549
NM_014844.5(TECPR2):c.3508_3532dup (p.Gln1178fs)
NM_014844.5(TECPR2):c.3565C>T (p.Gln1189Ter)
NM_014844.5(TECPR2):c.35_36del (p.Glu12fs) rs1259941860
NM_014844.5(TECPR2):c.3619_3628dup (p.Leu1210fs)
NM_014844.5(TECPR2):c.3686G>A (p.Trp1229Ter) rs2139771589
NM_014844.5(TECPR2):c.3737_3738del (p.Leu1246fs) rs2139771682
NM_014844.5(TECPR2):c.3750_3763dup (p.Trp1255fs)
NM_014844.5(TECPR2):c.3787del (p.Gln1263fs)
NM_014844.5(TECPR2):c.3863G>A (p.Trp1288Ter)
NM_014844.5(TECPR2):c.3918G>A (p.Trp1306Ter)
NM_014844.5(TECPR2):c.3942del (p.Cys1315fs) rs2139803627
NM_014844.5(TECPR2):c.3946C>T (p.Gln1316Ter) rs2139803640
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) rs1891340555
NM_014844.5(TECPR2):c.51C>G (p.Tyr17Ter)
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014844.5(TECPR2):c.675_676del (p.Leu225_Cys226insTer) rs2139715925
NM_014844.5(TECPR2):c.728G>A (p.Trp243Ter) rs2139716064
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312
NM_014844.5(TECPR2):c.877del (p.Ser293fs) rs2139716373
NM_014844.5(TECPR2):c.941_942del (p.Thr314fs)
NM_014844.5(TECPR2):c.949C>T (p.Gln317Ter)

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