List of variants in gene SYNE1 reported as pathogenic by Genetic Services Laboratory, University of Chicago

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	rs797046025	0.00001
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)	rs1203553546
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter)	rs2154018964
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)	rs797046024
NM_182961.4(SYNE1):c.19893+1G>T	rs1191629465
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)	rs1554573328
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)	rs1554553667
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs)	rs2154239396
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)	rs1554829141
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)	rs1554676394
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)	rs797046026

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