List of variants in gene RYR1 reported as likely pathogenic by Kariminejad - Najmabadi Pathology & Genetics Center

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	rs118192140	0.00004
NM_000540.3(RYR1):c.11178_11193+7del	rs1600949818
NM_000540.3(RYR1):c.14437C>T (p.His4813Tyr)	rs2145895177
NM_000540.3(RYR1):c.14738A>G (p.Tyr4913Cys)	rs1429521079
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	rs118192178

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