ClinVar Miner

List of variants in gene LOC126861365, TBCEL-TECTA, TECTA studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00060
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.2586C>G (p.Leu862=) rs374347076 0.00005
NM_005422.4(TECTA):c.2643C>T (p.Phe881=) rs544376595 0.00004
NM_005422.4(TECTA):c.2409G>A (p.Ser803=) rs778543447 0.00001
NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys) rs778979756 0.00001
NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) rs748088048 0.00001
NM_005422.4(TECTA):c.2835G>A (p.Gln945=) rs371290564 0.00001
NM_005422.4(TECTA):c.2876G>A (p.Arg959Gln) rs150403193 0.00001
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr) rs753896285 0.00001
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.2848G>A (p.Glu950Lys) rs1374232396
NM_005422.4(TECTA):c.2889C>A (p.Ala963=) rs1946659418
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) rs199688655

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