List of variants in gene RYR1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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: 50

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HGVS	dbSNP	gnomAD frequency
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)	rs114975624	0.00971
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met)	rs587784372	0.00471
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)	rs61739895	0.00460
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)	rs118126378	0.00334
NM_000540.3(RYR1):c.12283-7C>T	rs143861818	0.00206
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	rs143987857	0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	rs193922855	0.00163
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)	rs138630815	0.00125
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	rs138874610	0.00065
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	rs138704724	0.00057
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3])	rs398123469	0.00039
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	rs199738299	0.00038
NM_000540.3(RYR1):c.2658C>T (p.Ile886=)	rs148094797	0.00035
NM_000540.3(RYR1):c.1123-11C>T	rs3745845	0.00019
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)	rs149185729	0.00016
NM_000540.3(RYR1):c.14304-10G>A	rs368201693	0.00015
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_000540.3(RYR1):c.1172G>A (p.Arg391His)	rs769387053	0.00006
NM_000540.3(RYR1):c.2199G>C (p.Gly733=)	rs749285937	0.00005
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp)	rs575780192	0.00004
NM_000540.3(RYR1):c.1140G>A (p.Glu380=)	rs35189056	0.00003
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys)	rs748140394	0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	rs193922797	0.00002
NM_000540.3(RYR1):c.10018+7C>T	rs797045928	0.00001
NM_000540.3(RYR1):c.12160G>A (p.Val4054Met)	rs769642510	0.00001
NM_000540.3(RYR1):c.13122G>A (p.Val4374=)	rs797045930	0.00001
NM_000540.3(RYR1):c.1792-8A>T	rs746765869	0.00001
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn)	rs780145264	0.00001
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr)	rs750057461	0.00001
NM_000540.3(RYR1):c.4466G>A (p.Ser1489Asn)	rs34404839	0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)	rs761616815	0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)	rs193922826	0.00001
NM_000540.3(RYR1):c.1001G>T (p.Gly334Val)	rs587784371
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)	rs200144997
NM_000540.3(RYR1):c.10687-7C>A	rs2960354
NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	rs536148030
NM_000540.3(RYR1):c.1589G>T (p.Arg530Leu)	rs111888148
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)	rs559581937
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp)	rs35869497
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del)	rs371047178
NM_000540.3(RYR1):c.5674_5676del (p.Lys1892del)	rs587784377
NM_000540.3(RYR1):c.5954G>C (p.Ser1985Thr)	rs1441012614
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys)	rs587784378
NM_000540.3(RYR1):c.7425G>A (p.Gln2475=)	rs35512081
NM_000540.3(RYR1):c.7487C>G (p.Pro2496Arg)	rs193922817
NM_000540.3(RYR1):c.831G>C (p.Gln277His)	rs34004552

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