ClinVar Miner

List of variants in gene GATAD2B reported as pathogenic for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter) rs946006593
NM_020699.4(GATAD2B):c.229G>T (p.Glu77Ter)
NM_020699.4(GATAD2B):c.271_274dup (p.Ala92fs) rs1674944862
NM_020699.4(GATAD2B):c.453dup (p.Glu152fs)
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)

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