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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.226-2dup	rs774388631	0.00013
NM_182961.4(SYNE1):c.17682+1G>A	rs1064796579	0.00003
NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter)	rs773028680	0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	rs763325410	0.00001
NM_182961.4(SYNE1):c.7161del (p.Lys2388fs)	rs1220584620	0.00001
NM_001347702.2(SYNE1):c.1455del (p.Glu486fs)	rs1554414122
NM_182961.4(SYNE1):c.11176A>T (p.Lys3726Ter)	rs1057521719
NM_182961.4(SYNE1):c.12079-2A>T	rs2154019221
NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter)	rs886044588
NM_182961.4(SYNE1):c.13325del (p.Gly4442fs)	rs1064794555
NM_182961.4(SYNE1):c.13476del (p.Val4493fs)	rs1590230520
NM_182961.4(SYNE1):c.13666G>T (p.Glu4556Ter)	rs769284492
NM_182961.4(SYNE1):c.14211dup (p.Glu4738fs)	rs748695956
NM_182961.4(SYNE1):c.15897del (p.Met5300fs)	rs1057518603
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	rs1385280819
NM_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)	rs1554558620

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