ClinVar Miner

List of variants in gene TBCE reported as uncertain significance by GeneDx

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_003193.5(TBCE):c.1058C>T (p.Thr353Met) rs141668253 0.00016
NM_003193.5(TBCE):c.661-1251C>T rs1237851861 0.00004
NM_003193.5(TBCE):c.661-1170G>C rs753308633 0.00003
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys) rs199888401 0.00001
NM_003193.5(TBCE):c.425C>T (p.Ala142Val) rs2526961567
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr) rs150592371
NM_003193.5(TBCE):c.850C>G (p.Leu284Val) rs941572631

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