ClinVar Miner

List of variants in gene SYNE1 reported as likely pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_033071.3(SYNE1):c.11131A>T (p.Lys3711Ter) rs1057521719
NM_033071.3(SYNE1):c.12847C>T (p.Gln4283Ter) rs886044588
NM_033071.3(SYNE1):c.17469+1G>A rs1064796579
NM_033071.3(SYNE1):c.19793dup (p.Ala6599fs) rs1385280819
NM_033071.3(SYNE1):c.20935C>T (p.Arg6979Ter) rs763325410
NM_033071.3(SYNE1):c.8556T>G (p.Tyr2852Ter) rs1057521813
NM_182961.4(SYNE1):c.13325del (p.Gly4442fs) rs1064794555
NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter) rs773028680
NM_182961.4(SYNE1):c.15897del (p.Met5300fs) rs1057518603
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs) rs1554558620
NM_182961.4(SYNE1):c.24977-1777del rs1554414122

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