ClinVar Miner

List of variants reported as likely pathogenic for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53 by Invitae

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Total variants: 8
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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.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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