ClinVar Miner

Variants in gene combination TBCEL-TECTA, TECTA with conflicting interpretations reported as "likely benign and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
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.-1-12T>C rs145916279 0.00352
NM_005422.4(TECTA):c.690C>T (p.Ile230=) rs34605023 0.00319
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_005422.4(TECTA):c.3304G>A (p.Val1102Ile) rs34658230 0.00253
NM_005422.4(TECTA):c.1812C>T (p.Ser604=) rs138914618 0.00207
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_005422.4(TECTA):c.4788C>T (p.Ile1596=) rs150561147 0.00103
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6402G>T (p.Thr2134=) rs141203939
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721

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