List of variants in gene combination LOC126859838, SYNE1 reported as likely benign for hereditary skeletal muscle disorder

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.8550C>T (p.His2850=)	rs140565986	0.00024
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)	rs139079964	0.00019
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)	rs77853132	0.00011
NM_182961.4(SYNE1):c.8488-15T>G	rs754541640	0.00006
NM_182961.4(SYNE1):c.8652+14C>T	rs761672973	0.00006
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)	rs757737346	0.00002
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)	rs143105336	0.00002
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)	rs886061207	0.00001
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)	rs759736838	0.00001
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=)	rs146288148	0.00001
NM_182961.4(SYNE1):c.8488-15T>C	rs754541640
NM_182961.4(SYNE1):c.8488-5A>T
NM_182961.4(SYNE1):c.8544G>A (p.Ala2848=)	rs776642978
NM_182961.4(SYNE1):c.8544G>T (p.Ala2848=)
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=)	rs2154124074
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=)	rs2154124018
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
NM_182961.4(SYNE1):c.8652+9A>T

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