ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.1336C>A (p.Arg446Ser) rs567650961 0.00084
NM_198253.3(TERT):c.769G>T (p.Ala257Ser) rs964055372 0.00053
NM_198253.3(TERT):c.403G>A (p.Gly135Arg) rs200843534 0.00025
NM_198253.3(TERT):c.2014C>T (p.Arg672Cys) rs368430301 0.00024
NM_198253.3(TERT):c.1931C>T (p.Thr644Met) rs201927653 0.00023
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_198253.3(TERT):c.2884C>T (p.Arg962Cys) rs144697790 0.00019
NM_198253.3(TERT):c.2371G>A (p.Val791Ile) rs141425941 0.00016
NM_198253.3(TERT):c.3164C>T (p.Ser1055Leu) rs201330213 0.00009
NM_198253.3(TERT):c.3268G>A (p.Val1090Met) rs121918664 0.00009
NM_198253.3(TERT):c.779G>A (p.Gly260Asp) rs148798048 0.00009
NM_198253.3(TERT):c.569C>T (p.Ala190Val) rs781435225 0.00007
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_198253.3(TERT):c.1936C>T (p.Arg646Cys) rs147521473 0.00006
NM_198253.3(TERT):c.2177C>T (p.Thr726Met) rs149566858 0.00006
NM_198253.3(TERT):c.2141C>T (p.Thr714Met) rs772441504 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.3302C>T (p.Thr1101Met) rs764602705 0.00005
NM_198253.3(TERT):c.2652C>T (p.Leu884=) rs374309472 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.3323C>T (p.Pro1108Leu) rs376255453 0.00004
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met) rs199422306 0.00004
NM_198253.3(TERT):c.1099G>T (p.Gly367Cys) rs1751163506 0.00003
NM_198253.3(TERT):c.1393G>C (p.Val465Leu) rs758110675 0.00003
NM_198253.3(TERT):c.2387C>T (p.Ser796Phe) rs369810792 0.00003
NM_198253.3(TERT):c.2432G>A (p.Arg811His) rs552708120 0.00003
NM_198253.3(TERT):c.611A>T (p.Asn204Ile) rs764473257 0.00003
NM_198253.3(TERT):c.751G>A (p.Val251Ile) rs776569822 0.00003
NM_198253.3(TERT):c.863C>T (p.Ala288Val) rs774657340 0.00003
NM_198253.3(TERT):c.968C>G (p.Pro323Arg) rs139342764 0.00003
NM_198253.3(TERT):c.976G>A (p.Ala326Thr) rs1030156757 0.00003
NM_198253.3(TERT):c.2251G>A (p.Ala751Thr) rs772070672 0.00002
NM_198253.3(TERT):c.2353C>G (p.Pro785Ala) rs755822641 0.00002
NM_198253.3(TERT):c.3304C>A (p.Gln1102Lys) rs1042447238 0.00002
NM_198253.3(TERT):c.550G>A (p.Ala184Thr) rs773758089 0.00002
NM_198253.3(TERT):c.619G>A (p.Val207Ile) rs943176303 0.00002
NM_198253.3(TERT):c.724G>C (p.Ala242Pro) rs766054124 0.00002
NM_198253.3(TERT):c.1331A>G (p.Asp444Gly) rs878855299 0.00001
NM_198253.3(TERT):c.1490T>G (p.Leu497Arg) rs1751116306 0.00001
NM_198253.3(TERT):c.1615G>A (p.Glu539Lys) rs1203927893 0.00001
NM_198253.3(TERT):c.1954G>A (p.Glu652Lys) rs1228165704 0.00001
NM_198253.3(TERT):c.2185A>G (p.Ile729Val) rs753929279 0.00001
NM_198253.3(TERT):c.2213C>T (p.Thr738Met) rs1749789095 0.00001
NM_198253.3(TERT):c.2225G>A (p.Arg742His) rs727503468 0.00001
NM_198253.3(TERT):c.2354C>T (p.Pro785Leu) rs483352771 0.00001
NM_198253.3(TERT):c.2411G>T (p.Gly804Val) rs1442845192 0.00001
NM_198253.3(TERT):c.2655G>C (p.Arg885Ser) rs754372863 0.00001
NM_198253.3(TERT):c.2831G>A (p.Ser944Asn) rs759314942 0.00001
NM_198253.3(TERT):c.3172G>T (p.Ala1058Ser) rs1478959357 0.00001
NM_198253.3(TERT):c.708G>C (p.Lys236Asn) rs1250720718 0.00001
NM_198253.3(TERT):c.922C>G (p.Pro308Ala) rs753366759 0.00001
NM_198253.3(TERT):c.1151A>T (p.Gln384Leu) rs1167344136
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1474AAG[1] (p.Lys493del)
NM_198253.3(TERT):c.1499A>T (p.His500Leu) rs2126683887
NM_198253.3(TERT):c.1765A>C (p.Ile589Leu) rs1561205289
NM_198253.3(TERT):c.1824G>T (p.Gln608His) rs769540249
NM_198253.3(TERT):c.1885G>A (p.Gly629Arg) rs2126644343
NM_198253.3(TERT):c.1895C>T (p.Pro632Leu) rs1749925286
NM_198253.3(TERT):c.1990G>A (p.Val664Met) rs797046042
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2032G>A (p.Ala678Thr) rs1278095401
NM_198253.3(TERT):c.2072G>A (p.Arg691His) rs202123213
NM_198253.3(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.3(TERT):c.2221G>A (p.Val741Met) rs150819225
NM_198253.3(TERT):c.2377G>A (p.Glu793Lys) rs1043358053
NM_198253.3(TERT):c.2495C>T (p.Pro832Leu) rs1748794843
NM_198253.3(TERT):c.2542G>A (p.Asp848Asn) rs1003575407
NM_198253.3(TERT):c.2581G>A (p.Gly861Arg) rs1554039721
NM_198253.3(TERT):c.2608T>A (p.Phe870Ile) rs1748617178
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198253.3(TERT):c.2813G>A (p.Arg938Gln) rs199741493
NM_198253.3(TERT):c.2836T>C (p.Tyr946His) rs1748447400
NM_198253.3(TERT):c.2869A>G (p.Ser957Gly) rs1748158034
NM_198253.3(TERT):c.2947C>T (p.His983Tyr) rs1554038803
NM_198253.3(TERT):c.3002T>C (p.Ile1001Thr) rs2126573449
NM_198253.3(TERT):c.3042A>T (p.Ala1014=) rs1337149388
NM_198253.3(TERT):c.3100C>G (p.Arg1034Gly) rs777672180
NM_198253.3(TERT):c.3118G>T (p.Ala1040Ser) rs770144114
NM_198253.3(TERT):c.316G>T (p.Gly106Trp) rs1751265277
NM_198253.3(TERT):c.3300G>C (p.Gln1100His)
NM_198253.3(TERT):c.3326G>A (p.Gly1109Glu)
NM_198253.3(TERT):c.3362C>T (p.Pro1121Leu) rs1554038054
NM_198253.3(TERT):c.411G>T (p.Trp137Cys) rs1554043076
NM_198253.3(TERT):c.421C>G (p.Leu141Val) rs775225240
NM_198253.3(TERT):c.444G>T (p.Val148=)
NM_198253.3(TERT):c.508G>C (p.Val170Leu) rs387907248
NM_198253.3(TERT):c.567C>A (p.His189Gln) rs747935528
NM_198253.3(TERT):c.751G>C (p.Val251Leu) rs776569822
NM_198253.3(TERT):c.785C>T (p.Thr262Met) rs150277224
NM_198253.3(TERT):c.823C>T (p.Pro275Ser)
NM_198253.3(TERT):c.875C>G (p.Thr292Arg) rs1751193051
NM_198253.3(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.3(TERT):c.937C>A (p.Pro313Thr)
NM_198253.3(TERT):c.941C>T (p.Pro314Leu) rs1306142415

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