ClinVar Miner

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

Included ClinVar conditions (73):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.1318_1319del (p.Leu440fs) rs765874018 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NC_000014.8:g.(?_102873665)_(102964066_?)dup
NC_000014.8:g.(?_102899405)_(102901470_?)del
NC_000014.8:g.(?_102915956)_(102918974_?)dup
NC_000014.9:g.(?_102407328)_(102450659_?)dup
NC_000014.9:g.(?_102465131)_(102465314_?)dup
NM_014844.5(TECPR2):c.1005_1084+133del
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.1117_1126dup (p.His376fs)
NM_014844.5(TECPR2):c.1156del (p.Ala386fs) rs2139726701
NM_014844.5(TECPR2):c.1418-2A>G
NM_014844.5(TECPR2):c.1751del (p.Gly584fs) rs1345546964
NM_014844.5(TECPR2):c.1923_1924del (p.Glu641fs)
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
NM_014844.5(TECPR2):c.2011_2015del (p.Glu671fs) rs2139731468
NM_014844.5(TECPR2):c.218_219+15del rs1567314662
NM_014844.5(TECPR2):c.220-2A>G
NM_014844.5(TECPR2):c.2578+1G>A
NM_014844.5(TECPR2):c.2578+2T>C rs2139736635
NM_014844.5(TECPR2):c.2753-1G>A rs1276623521
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) rs1889895576
NM_014844.5(TECPR2):c.3075+1G>A
NM_014844.5(TECPR2):c.3075+2T>C
NM_014844.5(TECPR2):c.3789+1G>C rs2139771776
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs) rs1891300695
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) rs1891340555
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014844.5(TECPR2):c.694dup (p.Thr232fs) rs1889277232
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312
NM_014844.5(TECPR2):c.951+1G>C
NM_014844.5(TECPR2):c.983_990del (p.Asp328fs)

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