ClinVar Miner

List of variants reported as uncertain significance for congenital multicore myopathy with external ophthalmoplegia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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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.-69T>G rs886054377 0.00582
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.*135C>T rs188314477 0.00140
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=) rs36042816 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 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.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.8310+10A>G rs372730488 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.7028-8G>A rs147390699 0.00007
NM_000540.3(RYR1):c.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.10938-12T>A rs767711818 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu) rs544742812 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 0.00006
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln) rs748907487 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
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.9555-4C>T rs1417337927 0.00005
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr) rs761386401 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr) rs1030955858 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr) rs886054397 0.00003
NM_000540.3(RYR1):c.-31C>T rs375755030 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met) rs762258310 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys) rs777117206 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys) rs748140394 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.9122+8G>A rs772116480 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00002
NM_000540.3(RYR1):c.-118G>A rs1972297039 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn) rs150588606 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=) rs764395582 0.00001
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr) rs886054404 0.00001
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr) rs746798861 0.00001
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu) rs757097846 0.00001
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) rs794727983 0.00001
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg) rs373231458 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg) rs1974034199 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 0.00001
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser) rs558181103 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2682+13C>T rs745844424 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=) rs763082630 0.00001
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=) rs915321867 0.00001
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala) rs1458779012 0.00001
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys) rs886054382 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu) rs886054387 0.00001
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=) rs886038331 0.00001
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=) rs147901772 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr) rs766256366 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly) rs1260538999 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=) rs758872814 0.00001
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val) rs751482960 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro) rs1425983637 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=) rs767925886 0.00001
NM_000540.3(RYR1):c.8692+15G>A rs1219182533 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9554+13A>T rs1265960627 0.00001
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys) rs886054398 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_000540.3(RYR1):c.-61A>C rs1192726936
NM_000540.3(RYR1):c.-65G>C rs1204515719
NM_000540.3(RYR1):c.-69T>C rs886054377
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp) rs764263987
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His) rs747528384
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys) rs781379239
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg) rs1971614117
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr) rs764309886
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly) rs1972296147
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys) rs1973119741
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp) rs1972639264
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala) rs1973361809
NM_000540.3(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln) rs1974035851
NM_000540.3(RYR1):c.1440+13C>T rs774459267
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala) rs1183569355
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu) rs1225931762
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly) rs1425575552
NM_000540.3(RYR1):c.4160+8G>T rs886054383
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val) rs1968805897
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg) rs886054386
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro) rs886054390
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu) rs886054391
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp) rs1043076830
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys) rs1969440508
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=) rs1555780327
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala) rs886054378
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly) rs773540275
NM_000540.3(RYR1):c.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly) rs193922791
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val) rs1359576805
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro) rs1972635177
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) rs193922824
NM_000540.3(RYR1):c.7836-3C>T rs1345584460
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu) rs751301767
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu) rs150620191
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala) rs1970341837
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp) rs1234488220
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe) rs1966901541
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile) rs1970544424
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro) rs1970955432
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys) rs557030813
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955

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