ClinVar Miner

List of variants in gene TMPO reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001032283.3(TMPO):c.565+1848G>A rs34301677 0.00037
NM_001032283.3(TMPO):c.565+1186T>A rs146364154 0.00017
NM_001032283.3(TMPO):c.565+2182T>C rs571417296 0.00013
NM_001032283.3(TMPO):c.565+1641A>G rs143232629 0.00011
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu) rs368800243 0.00011
NM_001032283.3(TMPO):c.565+1617A>G rs771185259 0.00008
NM_001032283.3(TMPO):c.565+2102C>G rs764177808 0.00007
NM_001032283.3(TMPO):c.565+1213G>A rs368211058 0.00006
NM_001032283.3(TMPO):c.565+1328G>T rs369208265 0.00006
NM_001032283.3(TMPO):c.565+2361G>T rs746160070 0.00006
NM_001032283.3(TMPO):c.887A>G (p.Asn296Ser) rs771589075 0.00006
NM_001032283.3(TMPO):c.565+1310G>C rs779961791 0.00004
NM_001032283.3(TMPO):c.331G>C (p.Asp111His) rs201838047 0.00003
NM_001032283.3(TMPO):c.529A>G (p.Ser177Gly) rs765922156 0.00003
NM_001032283.3(TMPO):c.565+1287A>G rs534940271 0.00003
NM_001032283.3(TMPO):c.565+2247C>T rs369379490 0.00003
NM_001032283.3(TMPO):c.565+2268A>T rs759832690 0.00003
NM_001032283.3(TMPO):c.565+2301A>G rs765153747 0.00003
NM_001032283.3(TMPO):c.497C>A (p.Ser166Tyr) rs147012167 0.00002
NM_001032283.3(TMPO):c.565+1449A>G rs754951098 0.00002
NM_001032283.3(TMPO):c.70A>C (p.Asn24His) rs727505279 0.00002
NM_001032283.3(TMPO):c.85G>A (p.Ala29Thr) rs1174108011 0.00002
NM_001032283.3(TMPO):c.1143G>T (p.Arg381Ser) rs373609093 0.00001
NM_001032283.3(TMPO):c.160C>T (p.Pro54Ser) rs376363219 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1137G>A rs375903462 0.00001
NM_001032283.3(TMPO):c.565+1183C>T rs762263378 0.00001
NM_001032283.3(TMPO):c.565+1297C>T rs560525921 0.00001
NM_001032283.3(TMPO):c.565+1390A>G rs780719278 0.00001
NM_001032283.3(TMPO):c.565+1468A>G rs202106275 0.00001
NM_001032283.3(TMPO):c.565+1567C>T rs202166461 0.00001
NM_001032283.3(TMPO):c.565+1576T>C rs747232440 0.00001
NM_001032283.3(TMPO):c.565+1626C>G rs1555203864 0.00001
NM_001032283.3(TMPO):c.565+1648A>G rs1057524856 0.00001
NM_001032283.3(TMPO):c.565+1664dup rs1261891552 0.00001
NM_001032283.3(TMPO):c.565+2347T>C rs1450811229 0.00001
NM_001032283.3(TMPO):c.565+2367C>T rs772424658 0.00001
NM_001032283.3(TMPO):c.565+996G>A rs1276631548 0.00001
NM_001032283.3(TMPO):c.-2A>T
NM_001032283.3(TMPO):c.115C>T (p.Gln39Ter) rs1555201577
NM_001032283.3(TMPO):c.187C>T (p.Pro63Ser) rs1064797006
NM_001032283.3(TMPO):c.280-3C>T rs75172271
NM_001032283.3(TMPO):c.398C>T (p.Pro133Leu) rs794729185
NM_001032283.3(TMPO):c.565+1012A>C rs1877291034
NM_001032283.3(TMPO):c.565+1168A>T rs370585407
NM_001032283.3(TMPO):c.565+1311C>A rs2121203659
NM_001032283.3(TMPO):c.565+1420A>G
NM_001032283.3(TMPO):c.565+1479T>C rs2121204816
NM_001032283.3(TMPO):c.565+1873T>C rs1238424266
NM_001032283.3(TMPO):c.565+1928del rs1442448525
NM_001032283.3(TMPO):c.565+2128_565+2129del rs2121208972
NM_001032283.3(TMPO):c.565+2247C>G rs369379490
NM_001032283.3(TMPO):c.565+2304del
NM_001032283.3(TMPO):c.565+2434C>G
NM_001032283.3(TMPO):c.565+2495T>A
NM_001032283.3(TMPO):c.634C>T (p.Leu212Phe)
NM_001032283.3(TMPO):c.668_670dup (p.Tyr223_Ser224insTyr)
NM_001032283.3(TMPO):c.700A>T (p.Thr234Ser)
NM_001032283.3(TMPO):c.80dup (p.Pro28fs)
NM_001032283.3(TMPO):c.911A>G (p.His304Arg) rs1878137265

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