List of variants studied for Central core myopathy by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)	rs118192116
NM_000540.3(RYR1):c.12640_12648del (p.Arg4214_Phe4216del)	rs118192165
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)	rs118192166
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	rs118192167
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	rs63749869
NM_000540.3(RYR1):c.14587_14607del (p.Phe4863_Asp4869del)	rs118192169
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)	rs118192146
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	rs118192150
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	rs28933396

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