ClinVar Miner

List of variants in gene TERT reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 69
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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.2130+10G>A rs373879259 0.00048
NM_198253.3(TERT):c.403G>A (p.Gly135Arg) rs200843534 0.00025
NM_198253.3(TERT):c.3032+69G>A rs186849858 0.00023
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_198253.3(TERT):c.1974G>A (p.Val658=) rs778496417 0.00009
NM_198253.3(TERT):c.3296-5C>T rs371015305 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.1108C>T (p.Pro370Ser) rs143148040 0.00005
NM_198253.3(TERT):c.2287-5G>A rs561426406 0.00005
NM_198253.3(TERT):c.2255A>G (p.His752Arg) rs375699185 0.00004
NM_198253.3(TERT):c.2263G>A (p.Val755Ile) rs576633619 0.00004
NM_198253.3(TERT):c.3117G>A (p.Thr1039=) rs773595628 0.00004
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596 0.00004
NM_198253.3(TERT):c.2221G>T (p.Val741Leu) rs150819225 0.00003
NM_198253.3(TERT):c.2301A>G (p.Thr767=) rs374592280 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_198253.3(TERT):c.3267C>T (p.Tyr1089=) rs759883263 0.00003
NM_198253.3(TERT):c.1843G>A (p.Ala615Thr) rs112614087 0.00002
NM_198253.3(TERT):c.2187C>T (p.Ile729=) rs200819224 0.00002
NM_198253.3(TERT):c.2228G>A (p.Arg743Gln) rs768168259 0.00002
NM_198253.3(TERT):c.619G>A (p.Val207Ile) rs943176303 0.00002
NM_198253.3(TERT):c.1462C>T (p.Leu488Phe) rs746216837 0.00001
NM_198253.3(TERT):c.1609C>T (p.Arg537Cys) rs760352197 0.00001
NM_198253.3(TERT):c.1719C>G (p.Leu573=) rs978808687 0.00001
NM_198253.3(TERT):c.2227C>T (p.Arg743Trp) rs1388515349 0.00001
NM_198253.3(TERT):c.264G>C (p.Leu88=) rs768398792 0.00001
NM_198253.3(TERT):c.2844-11_2844-10del rs773793700 0.00001
NM_198253.3(TERT):c.404G>C (p.Gly135Ala) rs1414898591 0.00001
NM_198253.3(TERT):c.568G>A (p.Ala190Thr) rs377016753 0.00001
NM_198253.3(TERT):c.571A>G (p.Ser191Gly) rs1425605385 0.00001
NM_198253.3(TERT):c.1009G>A (p.Asp337Asn) rs2126686381
NM_198253.3(TERT):c.1153C>T (p.Arg385Cys) rs1751156834
NM_198253.3(TERT):c.1304T>A (p.Val435Glu) rs1561213530
NM_198253.3(TERT):c.1380G>A (p.Gln460=) rs754992012
NM_198253.3(TERT):c.1400_1401delinsTT (p.Ala467Val) rs2126684357
NM_198253.3(TERT):c.1448A>G (p.Asn483Ser) rs2126684107
NM_198253.3(TERT):c.1540G>T (p.Val514Leu) rs2126683768
NM_198253.3(TERT):c.1775A>G (p.His592Arg) rs2126644777
NM_198253.3(TERT):c.2012G>C (p.Arg671Pro) rs774381540
NM_198253.3(TERT):c.2081T>A (p.Val694Glu) rs1026167666
NM_198253.3(TERT):c.2092C>T (p.Arg698Trp)
NM_198253.3(TERT):c.2305C>T (p.Leu769Phe) rs2126617945
NM_198253.3(TERT):c.2318T>C (p.Met773Thr) rs2126617890
NM_198253.3(TERT):c.2562T>G (p.Phe854Leu) rs2126607250
NM_198253.3(TERT):c.2591T>C (p.Leu864Pro) rs1561194110
NM_198253.3(TERT):c.2817C>T (p.Thr939=) rs1561192997
NM_198253.3(TERT):c.2836T>C (p.Tyr946His) rs1748447400
NM_198253.3(TERT):c.2840C>T (p.Ser947Phe) rs2126594682
NM_198253.3(TERT):c.2844-12C>A rs199765802
NM_198253.3(TERT):c.2936G>A (p.Arg979Gln) rs765566930
NM_198253.3(TERT):c.3005A>G (p.Tyr1002Cys) rs2126573423
NM_198253.3(TERT):c.3048G>A (p.Val1016=) rs1454370746
NM_198253.3(TERT):c.3083A>C (p.Asn1028Thr) rs2126562757
NM_198253.3(TERT):c.3100C>T (p.Arg1034Cys) rs777672180
NM_198253.3(TERT):c.3171_3172delinsAA (p.Ala1058Thr) rs2126559924
NM_198253.3(TERT):c.320_328del (p.Ala107_Gly109del) rs1554043095
NM_198253.3(TERT):c.3256C>T (p.Arg1086Cys) rs1747563544
NM_198253.3(TERT):c.3281G>T (p.Gly1094Val) rs1554038180
NM_198253.3(TERT):c.648_649delinsAA (p.Pro217Thr) rs1554043029
NM_198253.3(TERT):c.688C>A (p.Arg230=) rs989271195
NM_198253.3(TERT):c.696G>A (p.Leu232=) rs1033402019
NM_198253.3(TERT):c.803G>A (p.Arg268His) rs374426285
NM_198253.3(TERT):c.931T>A (p.Ser311Thr) rs1060502998
NM_198253.3(TERT):c.943C>A (p.Arg315Ser) rs1554042911

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