ClinVar Miner

List of variants in gene CTBP1 reported as benign for not provided

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) rs1045458 0.01026
NM_001012614.2(CTBP1):c.514+1879C>T rs374273580 0.00488
NM_001012614.2(CTBP1):c.515-17dup rs201816175 0.00479
NM_001012614.2(CTBP1):c.135G>A (p.Ala45=) rs146416017 0.00156
NM_001012614.2(CTBP1):c.711C>T (p.Asn237=) rs147464431 0.00129
NM_001012614.2(CTBP1):c.444C>T (p.Val148=) rs139564947 0.00127
NM_001012614.2(CTBP1):c.681C>T (p.Gly227=) rs139911392 0.00121
NM_001012614.2(CTBP1):c.1206T>A (p.Pro402=) rs369652853 0.00083
NM_001012614.2(CTBP1):c.330C>T (p.Pro110=) rs111349558 0.00083
NM_001012614.2(CTBP1):c.988+13G>A rs74366429 0.00056
NM_001012614.2(CTBP1):c.988+19C>T rs368766407 0.00039
NM_001012614.2(CTBP1):c.1214A>T (p.His405Leu) rs377619487 0.00023
NM_001012614.2(CTBP1):c.515-9C>T rs375283311 0.00007
NM_001012614.2(CTBP1):c.1260G>A (p.Ala420=) rs532821312 0.00004
NM_001012614.2(CTBP1):c.1191C>A (p.Ser397=) rs137891531 0.00003
NM_001012614.2(CTBP1):c.162+5C>T
NM_001012614.2(CTBP1):c.162+892_162+961del rs1731619782
NM_001012614.2(CTBP1):c.163-8C>T rs111230970
NM_001012614.2(CTBP1):c.325G>A (p.Val109Met)
NM_001012614.2(CTBP1):c.514+11C>T
NM_001012614.2(CTBP1):c.590C>T (p.Ser197Leu)
NM_001012614.2(CTBP1):c.598G>A (p.Val200Met)
NM_001012614.2(CTBP1):c.822C>T (p.Arg274=) rs149624625
NM_001012614.2(CTBP1):c.860+5C>T
NM_001012614.2(CTBP1):c.860+8dup

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