ClinVar Miner

List of variants in gene TECPR2 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014844.5(TECPR2):c.4006C>T (p.Arg1336Trp) rs778817517 0.00005
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) rs752912949 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) rs1359602238
NM_014844.5(TECPR2):c.2829del (p.Asn944fs) rs1889895576
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.3418T>G (p.Trp1140Gly) rs1890167079
NM_014844.5(TECPR2):c.3830del (p.Asn1277fs) rs1891300695
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro) rs77170608
NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) rs1891340555
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) rs1888974364
NM_014844.5(TECPR2):c.694dup (p.Thr232fs) rs1889277232
NM_014844.5(TECPR2):c.774del (p.Asp259fs) rs772483312

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