ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_005422.4(TECTA):c.5384-19G>A rs7111480 0.00609
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.5861C>T (p.Thr1954Met) rs542600464 0.00006
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_005422.4(TECTA):c.3739A>C (p.Asn1247His) rs781691033 0.00002
NM_005422.4(TECTA):c.3857C>T (p.Pro1286Leu) rs770133038 0.00001
NM_005422.4(TECTA):c.1759A>G (p.Thr587Ala) rs1555123703
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063

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