List of variants in gene RYR1 reported as likely pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	rs118192173	0.00005
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp)	rs1057518970	0.00002
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)	rs763944786	0.00001
NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys)	rs774919231
NM_000540.3(RYR1):c.12532G>A (p.Gly4178Ser)	rs1057518885
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)	rs118192135
NM_000540.3(RYR1):c.1990G>C (p.Glu664Gln)	rs1555769818
NM_000540.3(RYR1):c.2338dup (p.Val780fs)	rs1967603354
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr)	rs193922810
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	rs118192178
NM_000540.3(RYR1):c.9850T>C (p.Trp3284Arg)	rs1555788577

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