ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val) rs755065800 0.00298
NM_000540.3(RYR1):c.14130-8C>G rs140808099 0.00242
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000540.3(RYR1):c.7141G>A (p.Glu2381Lys) rs148426762 0.00019
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_000540.3(RYR1):c.418G>A (p.Ala140Thr) rs142474192 0.00010
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10440+7G>A rs750987143 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.3951C>T (p.Pro1317=) rs745447236 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.6796G>C (p.Gly2266Arg) rs772803714 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.9348G>A (p.Ser3116=) rs763655831 0.00005
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.13015G>C (p.Ala4339Pro) rs1064797241 0.00004
NM_000540.3(RYR1):c.14912C>T (p.Thr4971Met) rs779835717 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.1952G>A (p.Arg651Gln) rs567997185 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4852C>T (p.Arg1618Cys) rs924891897 0.00004
NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys) rs777733662 0.00004
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp) rs896357123 0.00003
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln) rs759902314 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00003
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=) rs147786842 0.00003
NM_000540.3(RYR1):c.7244G>A (p.Arg2415Gln) rs201584482 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.7836G>A (p.Arg2612=) rs755128540 0.00003
NM_000540.3(RYR1):c.8112C>T (p.Cys2704=) rs763722972 0.00003
NM_000540.3(RYR1):c.9991G>A (p.Glu3331Lys) rs754426488 0.00003
NM_000540.3(RYR1):c.115G>A (p.Glu39Lys) rs539201276 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.2528G>A (p.Arg843His) rs144911352 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.569T>C (p.Val190Ala) rs752090652 0.00002
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182 0.00002
NM_000540.3(RYR1):c.7027+4A>T rs753538619 0.00002
NM_000540.3(RYR1):c.9587G>A (p.Arg3196His) rs1064797240 0.00002
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln) rs538500669 0.00001
NM_000540.3(RYR1):c.10052C>T (p.Pro3351Leu) rs970909296 0.00001
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly) rs778763130 0.00001
NM_000540.3(RYR1):c.13747-4T>G rs1287127447 0.00001
NM_000540.3(RYR1):c.14204G>A (p.Arg4735Gln) rs754190031 0.00001
NM_000540.3(RYR1):c.15014C>T (p.Thr5005Met) rs763710371 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.1931G>A (p.Arg644His) rs766150328 0.00001
NM_000540.3(RYR1):c.3218T>C (p.Ile1073Thr) rs769763365 0.00001
NM_000540.3(RYR1):c.408G>A (p.Leu136=) rs756918282 0.00001
NM_000540.3(RYR1):c.4578G>A (p.Met1526Ile) rs769254362 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4782G>A (p.Leu1594=) rs1064797239 0.00001
NM_000540.3(RYR1):c.5019C>T (p.Cys1673=) rs543026464 0.00001
NM_000540.3(RYR1):c.5986C>T (p.Arg1996Cys) rs1029641002 0.00001
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His) rs745319881 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.6790G>A (p.Gly2264Ser) rs1372408402 0.00001
NM_000540.3(RYR1):c.7483G>A (p.Val2495Met) rs200291321 0.00001
NM_000540.3(RYR1):c.7709C>T (p.Ala2570Val) rs544312224 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 0.00001
NM_000540.3(RYR1):c.8699G>C (p.Gly2900Ala) rs750366916 0.00001
NM_000540.3(RYR1):c.9122+7C>T rs199667629 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.1001G>A (p.Gly334Asp)
NM_000540.3(RYR1):c.10023C>G (p.Phe3341Leu) rs753154402
NM_000540.3(RYR1):c.10096C>A (p.Arg3366Ser) rs561638083
NM_000540.3(RYR1):c.10180G>T (p.Val3394Leu) rs1600898457
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.10590A>C (p.Gln3530His)
NM_000540.3(RYR1):c.10750G>A (p.Glu3584Lys) rs1600930723
NM_000540.3(RYR1):c.11229A>C (p.Glu3743Asp)
NM_000540.3(RYR1):c.11305C>T (p.Leu3769=)
NM_000540.3(RYR1):c.1131G>A (p.Leu377=) rs1555766901
NM_000540.3(RYR1):c.11369G>T (p.Gly3790Val)
NM_000540.3(RYR1):c.116A>G (p.Glu39Gly) rs1600630863
NM_000540.3(RYR1):c.12550G>T (p.Gly4184Cys) rs1973131361
NM_000540.3(RYR1):c.1274G>C (p.Arg425Pro)
NM_000540.3(RYR1):c.12791G>A (p.Gly4264Asp) rs949615251
NM_000540.3(RYR1):c.12803_12817dup (p.Ala4272_Glu4273insAlaGluAlaGlyAla)
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.12863CGG[2] (p.Ala4290_Ala4291del) rs1228854800
NM_000540.3(RYR1):c.12901G>A (p.Ala4301Thr) rs1599634913
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12971C>G (p.Thr4324Arg)
NM_000540.3(RYR1):c.1300G>A (p.Ala434Thr)
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr) rs1204041410
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr) rs1227202568
NM_000540.3(RYR1):c.13424A>G (p.Lys4475Arg)
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.13924C>T (p.Pro4642Ser)
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) rs373919284
NM_000540.3(RYR1):c.14365-6C>T rs1064797242
NM_000540.3(RYR1):c.14779G>A (p.Val4927Ile)
NM_000540.3(RYR1):c.14803+5G>C rs1599674587
NM_000540.3(RYR1):c.14812A>G (p.Ile4938Val) rs1599676533
NM_000540.3(RYR1):c.14963A>G (p.Asn4988Ser) rs2145918298
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr) rs774229699
NM_000540.3(RYR1):c.1855C>G (p.Leu619Val) rs1057519184
NM_000540.3(RYR1):c.199G>T (p.Val67Phe)
NM_000540.3(RYR1):c.2186T>C (p.Val729Ala)
NM_000540.3(RYR1):c.2683-4C>A rs1009407504
NM_000540.3(RYR1):c.3057_3071del (p.Val1021_Leu1025del) rs1600711151
NM_000540.3(RYR1):c.3343G>C (p.Gly1115Arg) rs775927793
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.364A>C (p.Thr122Pro) rs1555763388
NM_000540.3(RYR1):c.4204C>G (p.Pro1402Ala)
NM_000540.3(RYR1):c.447G>A (p.Met149Ile) rs772652844
NM_000540.3(RYR1):c.4915C>T (p.His1639Tyr) rs1969121916
NM_000540.3(RYR1):c.4949T>C (p.Leu1650Pro)
NM_000540.3(RYR1):c.4988C>G (p.Ser1663Trp)
NM_000540.3(RYR1):c.5309C>T (p.Ser1770Leu) rs398123472
NM_000540.3(RYR1):c.5347G>T (p.Val1783Leu)
NM_000540.3(RYR1):c.5465G>A (p.Gly1822Asp)
NM_000540.3(RYR1):c.5529G>T (p.Lys1843Asn)
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6664-5C>G rs867630021
NM_000540.3(RYR1):c.6664-8T>A
NM_000540.3(RYR1):c.7261G>C (p.Ala2421Pro) rs193922808
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7420C>G (p.Leu2474Val)
NM_000540.3(RYR1):c.7444+5A>G rs775251569
NM_000540.3(RYR1):c.7636A>G (p.Met2546Val)
NM_000540.3(RYR1):c.7696G>A (p.Ala2566Thr)
NM_000540.3(RYR1):c.7948C>T (p.Arg2650Cys) rs1970336071
NM_000540.3(RYR1):c.8201A>G (p.Asn2734Ser)
NM_000540.3(RYR1):c.8977C>A (p.Gln2993Lys)
NM_000540.3(RYR1):c.9233+6del rs757394018
NM_000540.3(RYR1):c.9476A>G (p.Asp3159Gly) rs879074444
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9901C>A (p.Pro3301Thr)

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