List of variants in gene SYNE1 reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	rs119103248	0.00083
NM_182961.4(SYNE1):c.15918-12A>G	rs606231134	0.00004
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter)	rs606231292	0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	rs763325410	0.00001
NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	rs760715690	0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter)	rs119103243	0.00001
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs)	rs606231135
NM_182961.4(SYNE1):c.16390-2A>G	rs759460806
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)	rs794727986
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter)	rs1269308421
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter)	rs119103245
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter)	rs119103244
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)	rs119103246
NM_182961.4(SYNE1):c.24313-2A>G	rs1586285494

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