ClinVar Miner

List of variants in gene SYN1 reported as pathogenic for X-linked disease

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1166dup (p.Ser390fs) rs2147912740
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
NM_006950.3(SYN1):c.122del (p.Gly41fs) rs2147933505
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs) rs2147912678
NM_006950.3(SYN1):c.1258dup (p.Arg420fs)
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter) rs757027813
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
NM_006950.3(SYN1):c.1321dup (p.Ala441fs)
NM_006950.3(SYN1):c.1385dup (p.Pro463fs) rs2147912440
NM_006950.3(SYN1):c.1406dup (p.Pro470fs)
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) rs2057771219
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1682dup (p.Gln562fs) rs2147912165
NM_006950.3(SYN1):c.1729del (p.Ala577fs)
NM_006950.3(SYN1):c.1794_1906del (p.Thr601fs)
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs) rs2147912005
NM_006950.3(SYN1):c.236C>G (p.Ser79Trp) rs2057941303
NM_006950.3(SYN1):c.248_264del (p.Ala83fs) rs2057941229
NM_006950.3(SYN1):c.2del (p.Met1fs) rs2057942403
NM_006950.3(SYN1):c.39del (p.Phe13fs)
NM_006950.3(SYN1):c.433_434del (p.Gln145fs) rs2147928664
NM_006950.3(SYN1):c.527+1G>T
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter) rs2147927599
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
NM_006950.3(SYN1):c.980+43_981del
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)

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