Variants in gene RYR1 with conflicting interpretations "risk factor" and "drug response"

Submission 1 (risk factor) minimum review status:		Submission 1 (risk factor) method:
Submission 2 (drug response) minimum review status:		Submission 2 (drug response) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 13

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	rs118192172	0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	rs121918593	0.00006
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	rs118192175	0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	rs28933397	0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	rs121918594	0.00001
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	rs118192167
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	rs121918595
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	rs118192170
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	rs118192162
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	rs118192161
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	rs121918596

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