List of variants in gene LOC126862902, RYR1 studied for congenital multicore myopathy with external ophthalmoplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	rs2229146	0.32548
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	rs2915952	0.32150
NM_000540.3(RYR1):c.8400+28A>G	rs2915953	0.32146
NM_000540.3(RYR1):c.8541+37T>G	rs2960343	0.31600
NM_000540.3(RYR1):c.8541+34C>T	rs2960342	0.31072
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	rs35180584	0.00291
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	rs150388417	0.00272
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)	rs147707463	0.00085
NM_000540.3(RYR1):c.8616+7G>A	rs200023171	0.00031
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	rs144777676	0.00016
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)	rs771306571	0.00014
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	rs767805554	0.00007
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr)	rs369194674	0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)	rs781458272	0.00006
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe)	rs769276412	0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys)	rs772769577	0.00003
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)	rs761622550	0.00002
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)	rs369040621	0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	rs193922830	0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=)	rs767925886	0.00001
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075
NM_000540.3(RYR1):c.8373del (p.Arg2792fs)
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	rs146514343
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	rs1057518773
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)	rs767722812
NM_000540.3(RYR1):c.8541+1del
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys)	rs1970446266
NM_000540.3(RYR1):c.[11941C>T;8342_8343del]

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