ClinVar Miner

List of variants in gene RYR1 reported as pathogenic for Minicore myopathy

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Gene type:
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Total variants: 18
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HGVS dbSNP
NM_000540.2(RYR1):c.10343C>T (p.Ser3448Phe) rs193922836
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14365-2A>T rs193922870
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14647-1449A>G rs193922886
NM_000540.2(RYR1):c.1739_1742dup (p.His581fs) rs193922771
NM_000540.2(RYR1):c.2097_2123del (p.Glu699_Gly707del) rs876661306
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.4496_4497del (p.Phe1499fs) rs1568476203
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7215del (p.Phe2406fs) rs1568501473
NM_000540.2(RYR1):c.7268T>A (p.Met2423Lys) rs118192174
NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]
NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]

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