List of variants in gene RYR2 reported as likely pathogenic by Blueprint Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	rs193922623	0.00016
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)	rs730880191	0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His)	rs727503396	0.00001
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys)	rs587782975
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	rs730880196
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	rs121918604
NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	rs730880199
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys)	rs730880200
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)	rs730880201
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	rs730880187
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	rs794728756

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