ClinVar Miner

List of variants in gene combination LOC126861365, TBCEL-TECTA, TECTA reported by GeneDx

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.2368-135T>G rs643744 0.73901
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20516
NM_005422.4(TECTA):c.2941+119T>C rs2282565 0.07507
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00392
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00058
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala) rs143315827 0.00046
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_005422.4(TECTA):c.2886C>T (p.Ser962=) rs138065050 0.00022
NM_005422.4(TECTA):c.2544G>A (p.Leu848=) rs144582229 0.00018
NM_005422.4(TECTA):c.2737G>A (p.Gly913Ser) rs143998942 0.00015
NM_005422.4(TECTA):c.2575G>A (p.Glu859Lys) rs192787819 0.00014
NM_005422.4(TECTA):c.2725C>T (p.Arg909Cys) rs139132568 0.00012
NM_005422.4(TECTA):c.2496A>G (p.Leu832=) rs764755600 0.00005
NM_005422.4(TECTA):c.2900C>T (p.Ala967Val) rs199688655 0.00005
NM_005422.4(TECTA):c.2720G>A (p.Arg907Gln) rs754174090 0.00004
NM_005422.4(TECTA):c.2890T>G (p.Cys964Gly) rs939019890 0.00004
NM_005422.4(TECTA):c.2548G>A (p.Gly850Ser) rs145520014 0.00003
NM_005422.4(TECTA):c.2793C>T (p.Asn931=) rs750710717 0.00003
NM_005422.4(TECTA):c.2528A>G (p.Asn843Ser) rs1432736397 0.00001
NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) rs748088048 0.00001
NM_005422.4(TECTA):c.2750A>G (p.Asp917Gly) rs749069103 0.00001
NM_005422.4(TECTA):c.2429G>T (p.Arg810Leu) rs780375885
NM_005422.4(TECTA):c.2503A>C (p.Ile835Leu) rs1417524314
NM_005422.4(TECTA):c.2504T>C (p.Ile835Thr) rs2135084344
NM_005422.4(TECTA):c.2578T>A (p.Phe860Ile) rs2135084506
NM_005422.4(TECTA):c.2672A>G (p.Asp891Gly)
NM_005422.4(TECTA):c.2810G>A (p.Arg937His)
NM_005422.4(TECTA):c.2866T>C (p.Ser956Pro) rs2135085263
NM_005422.4(TECTA):c.2941+1G>A rs966621865

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