ClinVar Miner

List of variants in gene SYN1 reported as pathogenic for X-linked epilepsy-learning disabilities-behavior disorders syndrome

Included ClinVar conditions (1):
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Total variants: 7
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NM_006950.3(SYN1):c.1001del (p.Asn334fs) rs1603051674
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter) rs137852560
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter) rs1603050544
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1663C>T (p.Gln555Ter) rs397514679
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_006950.3(SYN1):c.248_264del (p.Ala83fs)

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