ClinVar Miner

List of variants in gene TSEN54 reported as pathogenic for not provided

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter) rs143604970 0.00003
NM_207346.3(TSEN54):c.1156C>T (p.Gln386Ter) rs1337062385 0.00001
NM_207346.3(TSEN54):c.670_671del (p.Lys224fs) rs762142684 0.00001
NM_207346.3(TSEN54):c.103dup (p.Gln35fs) rs2147005509
NM_207346.3(TSEN54):c.1060_1078dup (p.Ala360fs) rs767505004
NM_207346.3(TSEN54):c.1087C>T (p.Gln363Ter)
NM_207346.3(TSEN54):c.1111G>T (p.Glu371Ter)
NM_207346.3(TSEN54):c.1117C>T (p.Gln373Ter) rs778884343
NM_207346.3(TSEN54):c.1172_1185del (p.Gln391fs) rs886037629
NM_207346.3(TSEN54):c.1207C>T (p.Gln403Ter)
NM_207346.3(TSEN54):c.1264C>T (p.Gln422Ter)
NM_207346.3(TSEN54):c.1286_1301dup (p.Asp434_Gly435insAsnThrProSerTer)
NM_207346.3(TSEN54):c.1384C>T (p.Arg462Ter)
NM_207346.3(TSEN54):c.1431-2A>G rs2147019225
NM_207346.3(TSEN54):c.190C>T (p.Gln64Ter)
NM_207346.3(TSEN54):c.203_204dup (p.Gln69fs)
NM_207346.3(TSEN54):c.291del (p.Lys97fs)
NM_207346.3(TSEN54):c.302_317del (p.Thr101fs)
NM_207346.3(TSEN54):c.424C>T (p.Gln142Ter)
NM_207346.3(TSEN54):c.449_450del (p.Val150fs)
NM_207346.3(TSEN54):c.486_487insGGAG (p.Arg163fs)
NM_207346.3(TSEN54):c.505C>T (p.Arg169Ter)
NM_207346.3(TSEN54):c.524_525del (p.Ser175fs) rs1379866260
NM_207346.3(TSEN54):c.547C>T (p.Gln183Ter) rs1555644470
NM_207346.3(TSEN54):c.580dup (p.Glu194fs)
NM_207346.3(TSEN54):c.604_605del (p.Arg202fs)
NM_207346.3(TSEN54):c.670A>T (p.Lys224Ter)
NM_207346.3(TSEN54):c.692del (p.Pro231fs)
NM_207346.3(TSEN54):c.696del (p.Cys234fs)
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
NM_207346.3(TSEN54):c.767del (p.Gly256fs)
NM_207346.3(TSEN54):c.775C>T (p.Gln259Ter) rs2147013169
NM_207346.3(TSEN54):c.789_798del (p.Leu264fs)
NM_207346.3(TSEN54):c.846_856del (p.Ala284fs)
NM_207346.3(TSEN54):c.869dup (p.Ala291fs)
NM_207346.3(TSEN54):c.887G>A (p.Trp296Ter)
NM_207346.3(TSEN54):c.923C>A (p.Ser308Ter)
NM_207346.3(TSEN54):c.940del (p.Leu314fs) rs1012275384
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
NM_207346.3(TSEN54):c.984_988del (p.Arg330fs)
NM_207346.3(TSEN54):c.991del (p.Glu331fs) rs1598477502

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