ClinVar Miner

List of variants in gene combination AP3B2, CPEB1 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs) rs1347618037 0.00001
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) rs1596183293
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter) rs2151441655
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) rs1481189891

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