ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
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_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_005138.3(SCO2):c.303G>C (p.Gln101His) rs141551295 0.00014
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys) rs749550071 0.00013
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) rs139715157 0.00012
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_000540.3(RYR1):c.12841G>A (p.Gly4281Arg) rs1131691504 0.00007
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) rs121434548 0.00006
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys) rs144500145 0.00006
NM_003900.5(SQSTM1):c.205+7G>C rs912066047 0.00006
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) rs398123373 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001267550.2(TTN):c.31349-4A>T rs1029227575 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_005262.3(GFER):c.580C>T (p.Arg194Cys) rs780851934 0.00003
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000540.3(RYR1):c.2936C>T (p.Ala979Val) rs769902566 0.00002
NM_001077365.2(POMT1):c.1330C>T (p.Arg444Cys) rs752384050 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_017534.6(MYH2):c.326G>A (p.Arg109His) rs1468175087 0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.6575A>G (p.Tyr2192Cys) rs748421460 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys) rs761023180 0.00001
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter) rs1397859218 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.36045G>A (p.Thr12015=) rs1209026573 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655 0.00001
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter) rs1304140510 0.00001
NM_007215.4(POLG2):c.562G>C (p.Gly188Arg) rs1339478122 0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter) rs386834034 0.00001
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met) rs534508633 0.00001
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) rs1469953832 0.00001
NM_198721.4(COL25A1):c.672+1G>A rs759316372 0.00001
NM_213599.3(ANO5):c.139-1del rs868484837 0.00001
NC_000023.11:g.31762447_31872385del
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.3(CAPN3):c.1115+2T>C rs1057524468
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.13A>G (p.Ile5Val) rs1265909242
NM_000070.3(CAPN3):c.237del (p.Glu79fs) rs760205277
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3912+3del
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu) rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met) rs121908547
NM_000426.4(LAMA2):c.1207-1G>A
NM_000426.4(LAMA2):c.2270G>C (p.Cys757Ser)
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000426.4(LAMA2):c.5968+5G>C rs1462533216
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000540.3(RYR1):c.1011G>T (p.Glu337Asp)
NM_000540.3(RYR1):c.11021T>C (p.Ile3674Thr)
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.12015C>A (p.Asp4005Glu)
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12218C>G (p.Ser4073Cys)
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13220del (p.Gly4407fs) rs1568583728
NM_000540.3(RYR1):c.14504G>A (p.Gly4835Glu)
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr) rs774229699
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
NM_000540.3(RYR1):c.5504A>C (p.Glu1835Ala)
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001077365.2(POMT1):c.1390dup (p.Trp464fs)
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro) rs1554774207
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_001080449.3(DNA2):c.64_74+1del rs556723627
NM_001100.4(ACTA1):c.1058C>T (p.Thr353Ile)
NM_001100.4(ACTA1):c.355G>C (p.Glu119Gln)
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) rs2140545005
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs) rs2128321525
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001159699.2(FHL1):c.786C>G (p.His262Gln)
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter) rs538329212
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) rs1859698620
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255
NM_001267550.2(TTN):c.103899_103903dup (p.Ala34635fs)
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.14089dup (p.Arg4697fs)
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=)
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.21068A>C (p.Gln7023Pro)
NM_001267550.2(TTN):c.25921+6C>T
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.37193del (p.Pro12398fs)
NM_001267550.2(TTN):c.37370-1G>A
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
NM_001267550.2(TTN):c.3963+5A>C
NM_001267550.2(TTN):c.39817+1G>C rs959064823
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
NM_001267550.2(TTN):c.40633+5G>T
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs) rs794729316
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.45567C>G (p.Tyr15189Ter)
NM_001267550.2(TTN):c.45932T>C (p.Ile15311Thr)
NM_001267550.2(TTN):c.4607C>T (p.Ala1536Val)
NM_001267550.2(TTN):c.46909A>C (p.Ile15637Leu)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer) rs869312107
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47802_47803dup (p.Ser15935fs)
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.48639-2A>C
NM_001267550.2(TTN):c.49997dup (p.Asn16666fs)
NM_001267550.2(TTN):c.50110_50111del (p.Thr16704fs)
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.52705+1G>A
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.59926+2T>C
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.67491G>A (p.Trp22497Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)
NM_001267550.2(TTN):c.70946ACA[1] (p.Asn23650del) rs794729336
NM_001267550.2(TTN):c.75020G>A (p.Cys25007Tyr)
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.76802C>A (p.Thr25601Lys)
NM_001267550.2(TTN):c.77365dup (p.Ile25789fs)
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg) rs745433704
NM_001267550.2(TTN):c.80922del (p.Pro26975fs)
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86190_86191insTAAAAAAAAAG (p.Val28731Ter)
NM_001267550.2(TTN):c.86424_86425del (p.Ser28809fs)
NM_001267550.2(TTN):c.86727dup (p.Gln28910fs)
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87814del (p.Tyr29272fs)
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.92248_92260del (p.Glu30750fs)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.99289T>C (p.Ser33097Pro)
NM_001363810.1(VMA21):c.194G>C (p.Gly65Ala)
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001458.5(FLNC):c.2011_2013dup (p.Lys671_Ala672insLys)
NM_001458.5(FLNC):c.7366G>C (p.Val2456Leu)
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.931-1G>A rs886042354
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) rs267606750
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_002693.3(POLG):c.1787T>G (p.Met596Arg)
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1708del (p.Leu570fs) rs2149137188
NM_004006.3(DMD):c.2623-3C>G rs863224988
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.5386C>A (p.Pro1796Thr)
NM_004006.3(DMD):c.6117+1G>T
NM_004006.3(DMD):c.6290+3076A>G
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.8086del (p.Leu2696fs) rs398124062
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004168.4(SDHA):c.1244C>T (p.Thr415Ile)
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) rs1735550179
NM_004369.4(COL6A3):c.1016G>C (p.Gly339Ala)
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.6139G>A (p.Gly2047Ser)
NM_004369.4(COL6A3):c.8404A>T (p.Thr2802Ser)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004370.6(COL12A1):c.8348G>A (p.Gly2783Asp)
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.9103C>T (p.Arg3035Ter)
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs) rs2107957043
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
NM_004415.4(DSP):c.4473_4495dup (p.Cys1499fs)
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) rs368908383
NM_005262.3(GFER):c.258+1G>A
NM_005476.7(GNE):c.1634-1G>T
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) rs1942174390
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) rs267607162
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
NM_012470.4(TNPO3):c.470G>A (p.Arg157His)
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
NM_015713.5(RRM2B):c.602C>T (p.Ser201Phe)
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) rs121918310
NM_017534.6(MYH2):c.1714G>A (p.Val572Ile)
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser) rs2142307936
NM_017534.6(MYH2):c.2790G>C (p.Glu930Asp)
NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)
NM_018684.4(ZC4H2):c.398+1_398+3del
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln) rs751880978
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp) rs137962226
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) rs111033579
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) rs1554887213
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) rs1159929268
NM_021971.4(GMPPB):c.721C>A (p.Pro241Thr)
NM_024301.5(FKRP):c.1267del (p.Arg423fs) rs886044083
NM_024301.5(FKRP):c.526C>G (p.Arg176Gly)
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.287G>T (p.Gly96Val) rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)
NM_152328.5(ADSS1):c.741dup (p.Lys248fs) rs769542442
NM_152393.4(KLHL40):c.1250T>A (p.Val417Asp)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.266G>C (p.Arg89Pro) rs59040894
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
NM_182961.4(SYNE1):c.13075T>C (p.Trp4359Arg)
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
NM_198721.4(COL25A1):c.672+1del rs2125927453
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.201_205del (p.Ser67fs) rs794727745

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