ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.3704A>G (p.Asn1235Ser) rs200852252 0.00046
NM_005422.4(TECTA):c.3896A>G (p.Gln1299Arg) rs137916023 0.00046
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005422.4(TECTA):c.3103G>A (p.Glu1035Lys) rs150512674 0.00028
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005422.4(TECTA):c.5672C>T (p.Thr1891Met)

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