ClinVar Miner

List of variants in gene SYN1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_006950.3(SYN1):c.1701A>T (p.Thr567=) rs770195822 0.00046
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00022
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln) rs775109362 0.00007
NM_006950.3(SYN1):c.435+10G>A rs771547188 0.00004
NM_006950.3(SYN1):c.1971C>T (p.His657=) rs201236500 0.00002
NM_006950.3(SYN1):c.1008G>A (p.Lys336=) rs754795220 0.00001
NM_006950.3(SYN1):c.334G>T (p.Ala112Ser) rs764283680 0.00001
NM_006950.3(SYN1):c.364C>T (p.Pro122Ser) rs774818779 0.00001
NM_006950.3(SYN1):c.1056-7T>G
NM_006950.3(SYN1):c.1270C>T (p.Arg424Trp) rs745743511
NM_006950.3(SYN1):c.1718C>T (p.Ala573Val)
NM_006950.3(SYN1):c.1962del (p.Pro655fs) rs1556857412
NM_006950.3(SYN1):c.2026del (p.Ala676fs) rs1064797369
NM_006950.3(SYN1):c.2030C>T (p.Pro677Leu)
NM_006950.3(SYN1):c.213G>C (p.Ser71=)
NM_006950.3(SYN1):c.497A>G (p.Glu166Gly)
NM_006950.3(SYN1):c.528-5A>G rs1064797370
NM_006950.3(SYN1):c.691C>T (p.Gln231Ter)
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
NM_006950.3(SYN1):c.981-7C>G

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