ClinVar Miner

List of variants in gene SYN1 reported by Institute for Human Genetics, University Hospital Essen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly) rs760804604 0.00001
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
NM_006950.3(SYN1):c.1121C>T (p.Ala374Val)
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.774G>T (p.Met258Ile)
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.980+43_981del
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813

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