ClinVar Miner

List of variants in gene TERF2IP studied for not provided

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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_018975.4(TERF2IP):c.-38C>G rs1865493 0.25991
NC_000016.10:g.75647705G>A rs1865492 0.14253
NM_018975.4(TERF2IP):c.796-205C>T rs56892159 0.11568
NM_018975.4(TERF2IP):c.796-247C>T rs60545422 0.11560
NM_018975.4(TERF2IP):c.795+97G>C rs72563121 0.03165
NM_018975.4(TERF2IP):c.-82G>T rs920037 0.03054
NM_018975.4(TERF2IP):c.970A>G (p.Lys324Glu) rs4888444 0.02920
NM_018975.4(TERF2IP):c.711G>A (p.Glu237=) rs72563120 0.00090
NM_018975.4(TERF2IP):c.1175G>A (p.Arg392Gln) rs369765785 0.00004
NC_000016.10:g.75760064A>C
NC_000016.10:g.75760858C>T
NC_000016.9:g.(?_75690142)_(75692092_?)del
NM_018975.4(TERF2IP):c.1011A>C (p.Leu337=)
NM_018975.4(TERF2IP):c.1011A>G (p.Leu337=)
NM_018975.4(TERF2IP):c.1041C>T (p.Ser347=)
NM_018975.4(TERF2IP):c.1053G>A (p.Ala351=)
NM_018975.4(TERF2IP):c.1053G>T (p.Ala351=)
NM_018975.4(TERF2IP):c.1062G>C (p.Gln354His)
NM_018975.4(TERF2IP):c.1074A>T (p.Gly358=)
NM_018975.4(TERF2IP):c.1081A>G (p.Ile361Val)
NM_018975.4(TERF2IP):c.1090C>T (p.Arg364Ter)
NM_018975.4(TERF2IP):c.1093C>G (p.Gln365Glu)
NM_018975.4(TERF2IP):c.1097A>G (p.Asp366Gly)
NM_018975.4(TERF2IP):c.1102A>G (p.Ile368Val)
NM_018975.4(TERF2IP):c.1105G>T (p.Asp369Tyr)
NM_018975.4(TERF2IP):c.1115A>G (p.Lys372Arg)
NM_018975.4(TERF2IP):c.1120G>C (p.Asp374His)
NM_018975.4(TERF2IP):c.1134A>C (p.Arg378Ser)
NM_018975.4(TERF2IP):c.1137G>T (p.Glu379Asp)
NM_018975.4(TERF2IP):c.1138G>A (p.Ala380Thr)
NM_018975.4(TERF2IP):c.1141T>C (p.Leu381=)
NM_018975.4(TERF2IP):c.1155T>C (p.Phe385=)
NM_018975.4(TERF2IP):c.1160C>T (p.Ala387Val)
NM_018975.4(TERF2IP):c.1190G>A (p.Arg397Gln)
NM_018975.4(TERF2IP):c.1197A>G (p.Lys399=)
NM_018975.4(TERF2IP):c.12G>A (p.Ala4=)
NM_018975.4(TERF2IP):c.140T>C (p.Leu47Pro)
NM_018975.4(TERF2IP):c.141G>A (p.Leu47=)
NM_018975.4(TERF2IP):c.145G>A (p.Gly49Ser)
NM_018975.4(TERF2IP):c.175C>T (p.Pro59Ser)
NM_018975.4(TERF2IP):c.178G>A (p.Gly60Arg)
NM_018975.4(TERF2IP):c.179G>A (p.Gly60Glu)
NM_018975.4(TERF2IP):c.181G>A (p.Ala61Thr)
NM_018975.4(TERF2IP):c.183C>T (p.Ala61=)
NM_018975.4(TERF2IP):c.223T>G (p.Ser75Ala)
NM_018975.4(TERF2IP):c.225G>C (p.Ser75=)
NM_018975.4(TERF2IP):c.236T>A (p.Ile79Asn)
NM_018975.4(TERF2IP):c.267G>C (p.Glu89Asp)
NM_018975.4(TERF2IP):c.275A>G (p.Glu92Gly)
NM_018975.4(TERF2IP):c.295T>C (p.Tyr99His)
NM_018975.4(TERF2IP):c.295T>G (p.Tyr99Asp)
NM_018975.4(TERF2IP):c.305G>T (p.Gly102Val)
NM_018975.4(TERF2IP):c.306C>T (p.Gly102=)
NM_018975.4(TERF2IP):c.307C>T (p.Pro103Ser)
NM_018975.4(TERF2IP):c.331T>C (p.Ser111Pro)
NM_018975.4(TERF2IP):c.332C>G (p.Ser111Trp)
NM_018975.4(TERF2IP):c.33C>T (p.Pro11=)
NM_018975.4(TERF2IP):c.345C>T (p.Pro115=)
NM_018975.4(TERF2IP):c.346G>C (p.Gly116Arg)
NM_018975.4(TERF2IP):c.347G>T (p.Gly116Val)
NM_018975.4(TERF2IP):c.359A>C (p.Glu120Ala)
NM_018975.4(TERF2IP):c.368C>G (p.Ala123Gly)
NM_018975.4(TERF2IP):c.370G>A (p.Glu124Lys)
NM_018975.4(TERF2IP):c.378G>C (p.Glu126Asp)
NM_018975.4(TERF2IP):c.386G>A (p.Arg129Gln)
NM_018975.4(TERF2IP):c.389A>T (p.His130Leu)
NM_018975.4(TERF2IP):c.398G>A (p.Arg133Gln)
NM_018975.4(TERF2IP):c.402C>A (p.Ile134=)
NM_018975.4(TERF2IP):c.429C>T (p.Ala143=)
NM_018975.4(TERF2IP):c.42C>T (p.Pro14=)
NM_018975.4(TERF2IP):c.462G>A (p.Ser154=) rs773739358
NM_018975.4(TERF2IP):c.462G>T (p.Ser154=)
NM_018975.4(TERF2IP):c.465C>T (p.Pro155=)
NM_018975.4(TERF2IP):c.46C>T (p.His16Tyr)
NM_018975.4(TERF2IP):c.471C>A (p.Ser157=)
NM_018975.4(TERF2IP):c.477C>T (p.Thr159=)
NM_018975.4(TERF2IP):c.512C>T (p.Ser171Leu)
NM_018975.4(TERF2IP):c.518C>G (p.Thr173Arg)
NM_018975.4(TERF2IP):c.519G>A (p.Thr173=)
NM_018975.4(TERF2IP):c.519G>T (p.Thr173=)
NM_018975.4(TERF2IP):c.51C>G (p.Ser17=)
NM_018975.4(TERF2IP):c.522G>T (p.Gln174His)
NM_018975.4(TERF2IP):c.524A>C (p.His175Pro)
NM_018975.4(TERF2IP):c.524A>T (p.His175Leu)
NM_018975.4(TERF2IP):c.528G>T (p.Ser176=)
NM_018975.4(TERF2IP):c.539T>G (p.Leu180Arg)
NM_018975.4(TERF2IP):c.552C>T (p.Tyr184=)
NM_018975.4(TERF2IP):c.576G>A (p.Glu192=)
NM_018975.4(TERF2IP):c.576G>C (p.Glu192Asp)
NM_018975.4(TERF2IP):c.578A>G (p.His193Arg)
NM_018975.4(TERF2IP):c.586C>T (p.Leu196=)
NM_018975.4(TERF2IP):c.588G>C (p.Leu196=)
NM_018975.4(TERF2IP):c.589C>T (p.Leu197=)
NM_018975.4(TERF2IP):c.592G>A (p.Gly198Arg)
NM_018975.4(TERF2IP):c.599C>G (p.Ala200Gly)
NM_018975.4(TERF2IP):c.600G>A (p.Ala200=)
NM_018975.4(TERF2IP):c.604G>T (p.Val202Leu)
NM_018975.4(TERF2IP):c.617C>A (p.Ser206Tyr)
NM_018975.4(TERF2IP):c.617C>G (p.Ser206Cys)
NM_018975.4(TERF2IP):c.666C>A (p.Ser222Arg)
NM_018975.4(TERF2IP):c.670+14G>T
NM_018975.4(TERF2IP):c.670+17C>T
NM_018975.4(TERF2IP):c.670+1G>A rs985541014
NM_018975.4(TERF2IP):c.670+20G>C
NM_018975.4(TERF2IP):c.670+8G>A
NM_018975.4(TERF2IP):c.671-100del rs34359798
NM_018975.4(TERF2IP):c.671-17G>T
NM_018975.4(TERF2IP):c.673C>T (p.Pro225Ser)
NM_018975.4(TERF2IP):c.728T>C (p.Ile243Thr)
NM_018975.4(TERF2IP):c.759G>A (p.Met253Ile)
NM_018975.4(TERF2IP):c.763G>A (p.Val255Met)
NM_018975.4(TERF2IP):c.764T>C (p.Val255Ala)
NM_018975.4(TERF2IP):c.766G>C (p.Glu256Gln)
NM_018975.4(TERF2IP):c.775C>T (p.Arg259Trp)
NM_018975.4(TERF2IP):c.776G>A (p.Arg259Gln)
NM_018975.4(TERF2IP):c.779A>C (p.Glu260Ala)
NM_018975.4(TERF2IP):c.781T>A (p.Phe261Ile)
NM_018975.4(TERF2IP):c.781T>C (p.Phe261Leu)
NM_018975.4(TERF2IP):c.785AGG[3] (p.Glu263_Val264insGlu)
NM_018975.4(TERF2IP):c.788A>G (p.Glu263Gly)
NM_018975.4(TERF2IP):c.791T>C (p.Val264Ala)
NM_018975.4(TERF2IP):c.795+19C>A rs72561501
NM_018975.4(TERF2IP):c.795+4T>C
NM_018975.4(TERF2IP):c.796-4C>G
NM_018975.4(TERF2IP):c.814G>C (p.Asp272His)
NM_018975.4(TERF2IP):c.816T>C (p.Asp272=)
NM_018975.4(TERF2IP):c.851C>T (p.Pro284Leu)
NM_018975.4(TERF2IP):c.85A>G (p.Met29Val)
NM_018975.4(TERF2IP):c.85A>T (p.Met29Leu)
NM_018975.4(TERF2IP):c.872C>G (p.Ser291Ter)
NM_018975.4(TERF2IP):c.877A>T (p.Thr293Ser)
NM_018975.4(TERF2IP):c.893A>G (p.Glu298Gly)
NM_018975.4(TERF2IP):c.895GAA[5] (p.Glu304del)
NM_018975.4(TERF2IP):c.897A>G (p.Glu299=)
NM_018975.4(TERF2IP):c.90C>T (p.Ser30=)
NM_018975.4(TERF2IP):c.916G>A (p.Val306Ile)
NM_018975.4(TERF2IP):c.924A>G (p.Gln308=)
NM_018975.4(TERF2IP):c.944T>C (p.Ile315Thr)
NM_018975.4(TERF2IP):c.951C>G (p.Ile317Met)
NM_018975.4(TERF2IP):c.953T>G (p.Ile318Ser)
NM_018975.4(TERF2IP):c.978C>T (p.Asn326=)
NM_018975.4(TERF2IP):c.97G>T (p.Val33Leu)
NM_018975.4(TERF2IP):c.991A>G (p.Thr331Ala)
NM_018975.4(TERF2IP):c.999A>G (p.Thr333=)

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