ClinVar Miner

List of variants in gene GATAD2B reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NC_000001.11:g.153812287_153823987del
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His) rs1674312870
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) rs1674245097
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.598-1G>A rs1674549557
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) rs1570938113
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs) rs797045594

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