List of variants in gene RYR1 reported as uncertain significance by CSER _CC_NCGL, University of Washington

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	rs193922854	0.00873
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	rs147213895	0.00104
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)	rs34390345	0.00058
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	rs144336148	0.00029
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)	rs143398211	0.00025
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	rs147918857	0.00019
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	rs147320363	0.00014
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	rs193922879	0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	rs150993059	0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)	rs193922795	0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)	rs375626634	0.00006
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)	rs145087576	0.00004
NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)	rs143520367	0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)	rs148540135	0.00004
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	rs368874586	0.00003
NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)	rs371566475	0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)	rs146306934	0.00003
NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys)	rs111364296	0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	rs193922810	0.00003
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr)	rs376338203	0.00002
NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)	rs144685735	0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His)	rs139161723	0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	rs118192130	0.00001
NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	rs376526576	0.00001
NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)	rs755911690	0.00001
NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg)	rs145573319	0.00001
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)	rs118192153
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)	rs150495044
NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly)	rs774603798
NM_000540.3(RYR1):c.4424T>C (p.Met1475Thr)	rs779963151

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