List of variants in gene RYR1 reported as uncertain significance by Institute of Human Genetics, University of Leipzig Medical 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00029
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)	rs751180702	0.00002
NM_000540.3(RYR1):c.12747G>C (p.Gln4249His)	rs1232214674	0.00001
NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val)	rs746166976	0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)	rs747488155	0.00001
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)	rs748748397
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)	rs1176364208
NM_000540.3(RYR1):c.7847del (p.Pro2616fs)	rs1970255367
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)	rs747337318

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