List of variants in gene combination LOC126859837, SYNE1 reported as likely benign for autosomal recessive disease

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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: 34

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.17020-20C>T	rs558291255	0.00017
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)	rs138509817	0.00012
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)	rs148994723	0.00010
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)	rs200002217	0.00010
NM_182961.4(SYNE1):c.16897-13A>G	rs754825945	0.00002
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)	rs570556738	0.00001
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=)	rs1455225493	0.00001
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)	rs573806608	0.00001
NM_182961.4(SYNE1):c.17020-16G>A	rs745471011	0.00001
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=)	rs769890058	0.00001
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=)	rs1194006323	0.00001
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
NM_182961.4(SYNE1):c.16897-20C>T
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=)	rs1554410681
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=)	rs771166232
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)	rs145899734
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=)	rs2153836703
NM_182961.4(SYNE1):c.17019+7C>T	rs2095511412
NM_182961.4(SYNE1):c.17020-10G>A	rs1307856395
NM_182961.4(SYNE1):c.17020-12T>G	rs1236300785
NM_182961.4(SYNE1):c.17020-9C>A	rs2153836238
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=)	rs2153836101
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=)	rs138941941
NM_182961.4(SYNE1):c.17202+16C>T

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