ClinVar Miner

List of variants in gene SYNJ1 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.1201-2A>G rs1569086116 0.00001
NC_000021.8:g.(?_34029319)_(34031816_?)del
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter) rs1569075471
NM_203446.3(SYNJ1):c.2461+2T>C
NM_203446.3(SYNJ1):c.3247+2T>G
NM_203446.3(SYNJ1):c.3430+1G>A rs2145769010
NM_203446.3(SYNJ1):c.3478+1G>A rs1085307987
NM_203446.3(SYNJ1):c.3589-1G>A
NM_203446.3(SYNJ1):c.789+1G>A rs2042124608

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