ClinVar Miner

List of variants in gene TCTN2 reported as pathogenic

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1336C>T (p.Arg446Ter) rs757485757 0.00002
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037 0.00002
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696 0.00002
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682 0.00001
NM_024809.5(TCTN2):c.1436T>G (p.Leu479Ter) rs1216783170 0.00001
NM_024809.5(TCTN2):c.1498del (p.Gln500fs) rs757123597 0.00001
NM_024809.5(TCTN2):c.1506-2A>G rs374349989 0.00001
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220 0.00001
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803 0.00001
NM_024809.5(TCTN2):c.1888_1889del (p.Leu630fs) rs1408997904 0.00001
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NC_000012.11:g.(?_124189059)_(124192260_?)del
NC_000012.12:g.(?_123699684)_(123699830_?)del
NM_024809.5(TCTN2):c.1028T>G (p.Leu343Ter) rs2135840135
NM_024809.5(TCTN2):c.1141_1143delinsCAACCCCTAGAATTGT (p.Val381fs)
NM_024809.5(TCTN2):c.1147G>T (p.Glu383Ter)
NM_024809.5(TCTN2):c.1235-1G>A rs863225425
NM_024809.5(TCTN2):c.1250_1251del (p.Arg417fs) rs2135847212
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1317C>G (p.Tyr439Ter) rs1196281944
NM_024809.5(TCTN2):c.1329del (p.Lys443fs) rs2541792114
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024809.5(TCTN2):c.1385G>A (p.Trp462Ter)
NM_024809.5(TCTN2):c.1550dup (p.His517fs) rs2541798281
NM_024809.5(TCTN2):c.1743_1744delinsTT (p.Gln581_Gln582delinsHisTer) rs2541806985
NM_024809.5(TCTN2):c.1794C>G (p.Tyr598Ter)
NM_024809.5(TCTN2):c.1806dup (p.Thr603fs) rs1956234424
NM_024809.5(TCTN2):c.184G>T (p.Glu62Ter) rs774994149
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter) rs1956235509
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.1873_1874del (p.Gln625fs) rs1025526121
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024809.5(TCTN2):c.487C>T (p.Gln163Ter) rs1306876740
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.573del (p.Ser192fs) rs2135834102
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.72G>A (p.Trp24Ter) rs1955746650
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.800_801del (p.Val267fs) rs754048525
NM_024809.5(TCTN2):c.83-2_96dup rs2541746245
NM_024809.5(TCTN2):c.898del (p.Leu300fs) rs924674737
NM_024809.5(TCTN2):c.916C>T (p.Gln306Ter)
NM_024809.5(TCTN2):c.964dup (p.Thr322fs) rs746186338

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