List of variants reported as pathogenic for RYR1-related myopathy by Fulgent Genetics, Fulgent Genetics

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	rs200563280	0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.10348-6C>G	rs193922837	0.00010
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	rs371898076	0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)	rs886039030	0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)	rs3218716	0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	rs752199191	0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)	rs121909523	0.00003
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	rs121913630	0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	rs193922803	0.00002
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	rs121913637	0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)	rs397516161	0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	rs267606908	0.00001
NM_000540.3(RYR1):c.14130-2A>G	rs1457662393	0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	rs1305971341	0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	rs1365856881	0.00001
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	rs121913624
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	rs397516127
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	rs121913632
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)	rs397516171
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	rs3218713
NM_000540.3(RYR1):c.10347+1G>A	rs111436401
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	rs1419938249
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	rs193922772
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	rs1456276440
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs)	rs886041380
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	rs758580075
NM_020451.3(SELENON):c.402_403+2del	rs773670891
NM_020451.3(SELENON):c.713dup (p.Asn238fs)	rs368104077

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