ClinVar Miner

List of variants in gene SYNJ1 reported as pathogenic for Early-onset Parkinson disease 20; Developmental and epileptic encephalopathy, 53

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_203446.3(SYNJ1):c.-12G>T rs1040540690 0.00004
NM_203446.3(SYNJ1):c.3865C>T (p.Arg1289Ter) rs747261340 0.00004
NM_203446.2(SYNJ1):c.12_13dup (p.Trp5Tyrfs) rs1227986180 0.00001
NM_203446.3(SYNJ1):c.2791_2795delATAAG (p.Arg932fs) rs778394516 0.00001
NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln) rs398122403 0.00001
NC_000021.8:g.(?_34011198)_(34100351_?)del
NC_000021.8:g.(?_34072128)_(34074377_?)del
NC_000021.9:g.(?_32727926)_(32728060_?)del
NM_203446.2(SYNJ1):c.24G>A (p.Trp8Ter) rs1569147057
NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)
NM_203446.3(SYNJ1):c.1066C>T (p.Gln356Ter)
NM_203446.3(SYNJ1):c.1093dup (p.Tyr365fs) rs1419316294
NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)
NM_203446.3(SYNJ1):c.1279_1280dup (p.Met428fs) rs2146047336
NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)
NM_203446.3(SYNJ1):c.1696_1699del (p.Pro566fs) rs2145981153
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_203446.3(SYNJ1):c.2125C>T (p.Arg709Ter)
NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
NM_203446.3(SYNJ1):c.2619dup (p.Glu874Ter)
NM_203446.3(SYNJ1):c.2896_2897del (p.Ile966fs)
NM_203446.3(SYNJ1):c.295del (p.Thr99fs) rs2146213651
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) rs1230133310
NM_203446.3(SYNJ1):c.3438dup (p.Ala1147fs) rs2145756643
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) rs2039933328
NM_203446.3(SYNJ1):c.345del (p.Ile116fs) rs2146213143
NM_203446.3(SYNJ1):c.3656dup (p.Thr1220fs)
NM_203446.3(SYNJ1):c.748C>T (p.Arg250Ter) rs1160469053

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