List of variants in gene RYR1 reported as likely pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00029
NM_000540.3(RYR1):c.1841G>A (p.Arg614His)	rs193922772	0.00004
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	rs111888148	0.00003
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	rs193922839	0.00001
NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)	rs374070555	0.00001
NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)	rs754522209	0.00001
NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)
NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu)	rs2145381188
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser)	rs1555803933
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	rs193922744
NM_000540.3(RYR1):c.5449del (p.Glu1817fs)	rs2145545066

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