ClinVar Miner

List of variants in gene GATAD2B studied for Inborn genetic diseases

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00046
NM_020699.4(GATAD2B):c.862A>G (p.Thr288Ala) rs756298987 0.00006
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) rs372276373 0.00001
NM_020699.4(GATAD2B):c.1069C>T (p.Arg357Cys)
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1420-4A>T
NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter) rs946006593
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu) rs1324892287
NM_020699.4(GATAD2B):c.163G>A (p.Ala55Thr)
NM_020699.4(GATAD2B):c.227A>G (p.Glu76Gly)
NM_020699.4(GATAD2B):c.229G>T (p.Glu77Ter)
NM_020699.4(GATAD2B):c.25C>T (p.Leu9Phe)
NM_020699.4(GATAD2B):c.271_274dup (p.Ala92fs) rs1674944862
NM_020699.4(GATAD2B):c.311C>T (p.Pro104Leu)
NM_020699.4(GATAD2B):c.349G>A (p.Gly117Arg)
NM_020699.4(GATAD2B):c.453dup (p.Glu152fs)
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.628G>T (p.Val210Phe) rs763237887
NM_020699.4(GATAD2B):c.668C>T (p.Ser223Phe)
NM_020699.4(GATAD2B):c.70C>T (p.Arg24Ter)
NM_020699.4(GATAD2B):c.730-1G>T rs1674522395
NM_020699.4(GATAD2B):c.751G>A (p.Ala251Thr) rs1352649088
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)

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