ClinVar Miner

List of variants in gene TERF2IP reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_018975.4(TERF2IP):c.970A>G (p.Lys324Glu) rs4888444 0.02920
NM_018975.4(TERF2IP):c.796-41C>G rs183325553 0.00378
NM_018975.4(TERF2IP):c.795+39C>T rs140028318 0.00283
NM_018975.4(TERF2IP):c.711G>A (p.Glu237=) rs72563120 0.00090
NM_018975.4(TERF2IP):c.1175G>A (p.Arg392Gln) rs369765785 0.00004
NM_018975.4(TERF2IP):c.602C>T (p.Pro201Leu) rs762304444 0.00001
NM_018975.4(TERF2IP):c.*49A>C
NM_018975.4(TERF2IP):c.-1C>T
NM_018975.4(TERF2IP):c.-25C>T rs2233810
NM_018975.4(TERF2IP):c.-35G>A
NM_018975.4(TERF2IP):c.1022G>A (p.Gly341Asp)
NM_018975.4(TERF2IP):c.1053G>A (p.Ala351=)
NM_018975.4(TERF2IP):c.1115A>G (p.Lys372Arg)
NM_018975.4(TERF2IP):c.1134A>C (p.Arg378Ser)
NM_018975.4(TERF2IP):c.1141T>C (p.Leu381=)
NM_018975.4(TERF2IP):c.177C>T (p.Pro59=) rs747932710
NM_018975.4(TERF2IP):c.193G>A (p.Ala65Thr)
NM_018975.4(TERF2IP):c.197A>G (p.Gln66Arg)
NM_018975.4(TERF2IP):c.22G>T (p.Gly8Cys)
NM_018975.4(TERF2IP):c.256G>T (p.Asp86Tyr)
NM_018975.4(TERF2IP):c.294C>G (p.Ala98=)
NM_018975.4(TERF2IP):c.307C>T (p.Pro103Ser)
NM_018975.4(TERF2IP):c.33C>T (p.Pro11=)
NM_018975.4(TERF2IP):c.363C>G (p.Gly121=)
NM_018975.4(TERF2IP):c.395G>T (p.Gly132Val)
NM_018975.4(TERF2IP):c.398G>A (p.Arg133Gln)
NM_018975.4(TERF2IP):c.421G>A (p.Asp141Asn)
NM_018975.4(TERF2IP):c.423C>T (p.Asp141=)
NM_018975.4(TERF2IP):c.429C>T (p.Ala143=)
NM_018975.4(TERF2IP):c.450A>G (p.Glu150=)
NM_018975.4(TERF2IP):c.462G>A (p.Ser154=) rs773739358
NM_018975.4(TERF2IP):c.572A>G (p.Gln191Arg)
NM_018975.4(TERF2IP):c.638C>T (p.Ala213Val)
NM_018975.4(TERF2IP):c.670+16G>T
NM_018975.4(TERF2IP):c.670+1G>A rs985541014
NM_018975.4(TERF2IP):c.670+25C>A
NM_018975.4(TERF2IP):c.795+19C>A rs72561501
NM_018975.4(TERF2IP):c.795+50T>C
NM_018975.4(TERF2IP):c.816T>C (p.Asp272=)
NM_018975.4(TERF2IP):c.85A>T (p.Met29Leu)
NM_018975.4(TERF2IP):c.915A>C (p.Lys305Asn)

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