ClinVar Miner

List of variants in gene combination LOC108663996, TBP reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003194.5(TBP):c.231_240del (p.Gln77fs) rs773085804 0.03459
NM_003194.5(TBP):c.231_243del (p.Gln77fs) rs771725566 0.01524
NM_003194.5(TBP):c.216_218del (p.Gln95del) rs71815788
NM_003194.5(TBP):c.225GCA[18] (p.Gln95del) rs752404282
NM_003194.5(TBP):c.226_227insCAA (p.Gln76delinsProLys) rs1779151861

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