List of variants in gene LOC126859836, SYNE1 studied for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.21656+13T>C	rs9383976	0.26855
NM_182961.4(SYNE1):c.21523-8T>G	rs187773880	0.00106
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)	rs141170182	0.00013
NM_182961.4(SYNE1):c.21523-18G>T	rs191367384	0.00012
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)	rs778441411	0.00004
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)	rs377449974	0.00004
NM_182961.4(SYNE1):c.21523-19G>A	rs1480392957	0.00001
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)	rs1257118792	0.00001
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)	rs763768133	0.00001
NM_182961.4(SYNE1):c.21523-11T>C
NM_182961.4(SYNE1):c.21523-6G>C	rs774046000
NM_182961.4(SYNE1):c.21523-8del
NM_182961.4(SYNE1):c.21523-8dup	rs761577958
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)	rs780059512
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)	rs794727041

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