ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for not specified

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Total variants: 111
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HGVS dbSNP gnomAD frequency
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.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
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.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.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
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.6961A>G (p.Ile2321Val) rs34390345 0.00058
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.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000540.3(RYR1):c.14304-10G>A rs368201693 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
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.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.2199G>C (p.Gly733=) rs749285937 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00004
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
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.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000540.3(RYR1):c.10018+7C>T rs797045928 0.00001
NM_000540.3(RYR1):c.10147G>A (p.Ala3383Thr) rs747790775 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 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.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.1792-8A>T rs746765869 0.00001
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys) rs138020885 0.00001
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn) rs780145264 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.3686T>C (p.Met1229Thr) rs750057461 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6564C>G (p.Asn2188Lys) rs373570763 0.00001
NM_000540.3(RYR1):c.6797-7C>T rs994688451 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=) rs374058542 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser) rs2145712109
NM_000540.3(RYR1):c.11779-11G>A
NM_000540.3(RYR1):c.1186_1187inv (p.Glu396Ser)
NM_000540.3(RYR1):c.12188T>C (p.Met4063Thr) rs777285788
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr) rs1227202568
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
NM_000540.3(RYR1):c.1415A>G (p.Asn472Ser) rs1057518361
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) rs373919284
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14802G>C (p.Gln4934His) rs1555805334
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.1589G>T (p.Arg530Leu) rs111888148
NM_000540.3(RYR1):c.1874T>C (p.Leu625Pro) rs1555769513
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu) rs78835441
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln) rs944826130
NM_000540.3(RYR1):c.4411G>T (p.Val1471Leu) rs767558988
NM_000540.3(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.3(RYR1):c.4682T>A (p.Ile1561Asn) rs1057518453
NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr) rs1316064829
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5628GGA[2] (p.Glu1878del) rs371047178
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del) rs772076294
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
NM_000540.3(RYR1):c.5954G>C (p.Ser1985Thr) rs1441012614
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
NM_000540.3(RYR1):c.7114G>C (p.Gly2372Arg) rs1600820601
NM_000540.3(RYR1):c.7543C>A (p.Gln2515Lys)
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr) rs1358912817
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.8156A>T (p.Tyr2719Phe) rs1555785252
NM_000540.3(RYR1):c.9233+3A>G rs1555787274
NM_000540.3(RYR1):c.9473-3C>T
NM_000540.3(RYR1):c.957+5_957+29del rs794726982

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