ClinVar Miner

List of variants in gene CTBP1 studied for Inborn genetic diseases

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001012614.2(CTBP1):c.515-3C>T rs374755819 0.00024
NM_001012614.2(CTBP1):c.721G>A (p.Val241Ile) rs767549924 0.00015
NM_001012614.2(CTBP1):c.1195G>A (p.Gly399Ser)
NM_001012614.2(CTBP1):c.154C>T (p.His52Tyr) rs2108786061
NM_001012614.2(CTBP1):c.212C>T (p.Thr71Ile)
NM_001012614.2(CTBP1):c.293C>G (p.Ser98Trp)
NM_001012614.2(CTBP1):c.598G>A (p.Val200Met)
NM_001012614.2(CTBP1):c.679G>A (p.Gly227Ser)
NM_001012614.2(CTBP1):c.688G>A (p.Glu230Lys)
NM_001012614.2(CTBP1):c.848C>T (p.Ser283Leu)
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802

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