ClinVar Miner

List of variants in gene TSEN2 reported as uncertain significance for Pontoneocerebellar hypoplasia

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_025265.4(TSEN2):c.*419A>G rs139545175 0.00176
NM_025265.4(TSEN2):c.1248+15G>C rs200663602 0.00073
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_025265.4(TSEN2):c.990A>G (p.Lys330=) rs113260160 0.00063
NM_025265.4(TSEN2):c.522C>T (p.Asn174=) rs141580750 0.00059
NM_025265.4(TSEN2):c.1013C>G (p.Thr338Arg) rs145142315 0.00038
NM_025265.4(TSEN2):c.322G>T (p.Val108Phe) rs202097247 0.00037
NM_025265.4(TSEN2):c.*475C>T rs145812749 0.00027
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00026
NM_025265.4(TSEN2):c.*430G>A rs145164317 0.00020
NM_025265.4(TSEN2):c.*458C>T rs559783669 0.00016
NM_025265.4(TSEN2):c.872A>G (p.Tyr291Cys) rs140979604 0.00016
NM_025265.4(TSEN2):c.1029C>T (p.Tyr343=) rs371073764 0.00014
NM_025265.4(TSEN2):c.748G>A (p.Asp250Asn) rs757172883 0.00009
NM_025265.4(TSEN2):c.*56A>T rs749423706 0.00008
NM_025265.4(TSEN2):c.635A>C (p.Glu212Ala) rs201734805 0.00008
NM_025265.4(TSEN2):c.*211C>T rs886057911 0.00006
NM_025265.4(TSEN2):c.1104A>G (p.Leu368=) rs761076607 0.00006
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter) rs201467485 0.00004
NM_025265.4(TSEN2):c.768G>A (p.Glu256=) rs200009549 0.00004
NM_025265.4(TSEN2):c.1249-12A>G rs370637450 0.00003
NM_025265.4(TSEN2):c.491C>T (p.Thr164Ile) rs1178412243 0.00002
NM_025265.4(TSEN2):c.845A>G (p.Asn282Ser) rs202056552 0.00002
NM_025265.4(TSEN2):c.961-14G>A rs748777382 0.00002
NM_025265.4(TSEN2):c.*95T>C rs528422124 0.00001
NM_025265.4(TSEN2):c.-13C>T rs780952847 0.00001
NM_025265.4(TSEN2):c.-18+10G>A rs886057908 0.00001
NM_025265.4(TSEN2):c.105A>G (p.Lys35=) rs777378178 0.00001
NM_025265.4(TSEN2):c.119T>G (p.Phe40Cys) rs138662263 0.00001
NM_025265.4(TSEN2):c.1233C>T (p.Ser411=) rs747491166 0.00001
NM_025265.4(TSEN2):c.657T>C (p.His219=) rs754200115 0.00001
NM_025265.4(TSEN2):c.700C>T (p.Leu234Phe) rs760813133 0.00001
NM_025265.4(TSEN2):c.*106A>G rs1276816567
NM_025265.4(TSEN2):c.*198A>G rs551722010
NM_025265.4(TSEN2):c.*19C>T rs1274814643
NM_025265.4(TSEN2):c.*448C>G rs886057912
NM_025265.4(TSEN2):c.1255A>C (p.Met419Leu) rs370820344
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_025265.4(TSEN2):c.604A>T (p.Thr202Ser) rs886057909
NM_025265.4(TSEN2):c.680C>T (p.Ala227Val) rs886057910
NM_025265.4(TSEN2):c.704A>G (p.His235Arg) rs769122669

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