ClinVar Miner

List of variants reported as pathogenic for hereditary skeletal muscle disorder by Mendelics

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_213599.3(ANO5):c.692G>T (p.Gly231Val) rs137854523 0.00098
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) rs761897806 0.00009
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) rs145420388 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_152328.5(ADSS1):c.919del (p.Ile307fs) rs559454746 0.00003
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000426.4(LAMA2):c.5234+1G>A rs781376927 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_001077365.2(POMT1):c.986+1G>A rs961071228 0.00001
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs) rs1559207733 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) rs398124008 0.00001
NM_014254.3(RXYLT1):c.429-2A>G rs199605239 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NC_000023.11:g.32390170_32390182del rs2147621477
NC_000023.11:g.32565874_32565883dup rs2149095626
NC_012920.1(MT-ND1):m.1624C>T rs199476144
NC_012920.1(MT-ND1):m.1644G>A rs587776441
NC_012920.1(MT-ND1):m.1659T>C rs1603218609
NC_012920.1(MT-TI):m.4284G>A rs121434468
NC_012920.1(MT-TI):m.4296G>A rs1603219393
NC_012920.1(MT-TI):m.4300A>G rs121434470
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TK):m.8356T>C rs118192099
NC_012920.1(MT-TK):m.8362T>G rs1603221423
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3242G>A rs193303018
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TL1):m.3243A>T rs199474657
NC_012920.1(MT-TL1):m.3251A>G rs199474662
NC_012920.1(MT-TL1):m.3255G>A rs1603218856
NC_012920.1(MT-TL1):m.3271T>C rs199474658
NC_012920.1(MT-TL1):m.3291T>C rs869312463
NC_012920.1(MT-TL1):m.3302A>G rs1603218878
NC_012920.1(MT-TL1):m.3303C>T rs199474660
NC_012920.1(MT-TP):m.16002T>C rs1603225633
NC_012920.1(MT-TS2):m.12207G>A rs118203889
NC_012920.1(MT-TS2):m.12258C>T rs118203888
NC_012920.1(MT-TS2):m.12264C>T rs1603223642
NC_012920.1(MT-TW):m.5521G>A rs199474673
NC_012920.1(MT-TW):m.5532G>A rs199474674
NC_012920.1(MT-TW):m.5540G>A rs1603220014
NC_012920.1(MT-TW):m.5543T>C rs1603220016
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) rs121434545
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) rs146538551
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000252.3(MTM1):c.136+1G>T rs1603124201
NM_000252.3(MTM1):c.490_493del (p.Trp164fs) rs1603184989
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) rs1185229314
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) rs1583470073
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) rs1583475938
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) rs1180309541
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) rs1392196900
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) rs748541803
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) rs1415944134
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) rs1583756552
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) rs2114900655
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) rs2114910650
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001164508.2(NEB):c.1674+2T>C rs1553603437
NM_001164508.2(NEB):c.20467-2A>C rs1392500142
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter) rs1576203853
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23847del (p.Glu7950fs) rs1575305566
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.870_873del (p.Ser290fs) rs2150050727
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) rs2067087661
NM_001267550.2(TTN):c.65863+1G>A rs2154178615
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs) rs1603589162
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001849.4(COL6A2):c.1053+2T>C rs2123631474
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) rs387906609
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys) rs886042705
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter) rs1181271457
NM_004006.3(DMD):c.10086+1G>T rs398123828
NM_004006.3(DMD):c.10087-1G>A rs1602417503
NM_004006.3(DMD):c.10223+4A>G rs2148290215
NM_004006.3(DMD):c.10223+5G>C rs2148290176
NM_004006.3(DMD):c.10224-1dup rs1602409174
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter) rs1602369798
NM_004006.3(DMD):c.10367del (p.Asn3456fs) rs1556028034
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer) rs1602337330
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs) rs1602146767
NM_004006.3(DMD):c.10677dup (p.Ala3560fs) rs2147934458
NM_004006.3(DMD):c.1098dup (p.Glu367fs) rs2146833198
NM_004006.3(DMD):c.1144del (p.His382fs) rs1602467590
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter) rs1602467530
NM_004006.3(DMD):c.1150-2A>T rs794727030
NM_004006.3(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter) rs1234153462
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter) rs128626241
NM_004006.3(DMD):c.1602+2T>A rs2149264374
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs) rs1601810667
NM_004006.3(DMD):c.1734dup (p.Glu579fs) rs398123866
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter) rs1601808608
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter) rs1601808326
NM_004006.3(DMD):c.1788del (p.Met596fs) rs1601808296
NM_004006.3(DMD):c.1791dup (p.Ser598fs) rs1601808288
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter) rs2149095319
NM_004006.3(DMD):c.1941dup (p.Ala648fs) rs2149094788
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter) rs1603636537
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter) rs128626232
NM_004006.3(DMD):c.2064dup (p.Thr689fs) rs1603635953
NM_004006.3(DMD):c.208A>T (p.Arg70Ter) rs2080510348
NM_004006.3(DMD):c.2101del (p.Glu701fs) rs1603635950
NM_004006.3(DMD):c.2114del (p.Pro705fs) rs1603635949
NM_004006.3(DMD):c.2169-1G>A rs1603635331
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs) rs2148804513
NM_004006.3(DMD):c.2287_2292+12del rs1603635326
NM_004006.3(DMD):c.2293-2_2294del rs2148691727
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter) rs201366610
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter) rs2148691516
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter) rs763844939
NM_004006.3(DMD):c.2380+1G>A rs398123884
NM_004006.3(DMD):c.2407del (p.Gln803fs) rs1603634748
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter) rs398123889
NM_004006.3(DMD):c.2442del (p.Glu814fs) rs1603634747
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter) rs1603634746
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter) rs1603634745
NM_004006.3(DMD):c.2499del (p.Ile833fs) rs2148631657
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs) rs1603634742
NM_004006.3(DMD):c.261_264+3del rs2148984206
NM_004006.3(DMD):c.2622+1G>T rs398123901
NM_004006.3(DMD):c.263_264dup (p.Val89fs) rs1603447057
NM_004006.3(DMD):c.264+5G>A rs398123902
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter) rs747937552
NM_004006.3(DMD):c.265-463A>G rs1603441629
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.2708del (p.Gly903fs) rs1603634607
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs) rs1603634604
NM_004006.3(DMD):c.2853del (p.Arg952fs) rs1603634299
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter) rs1603634298
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter) rs2148485357
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter) rs767387334
NM_004006.3(DMD):c.2950-2A>G rs398123915
NM_004006.3(DMD):c.2960del (p.Ser987fs) rs1603634207
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter) rs1603634206
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter) rs398123919
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter) rs398123920
NM_004006.3(DMD):c.31+1del rs1603419074
NM_004006.3(DMD):c.31+5G>A rs1403865104
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs) rs1603634203
NM_004006.3(DMD):c.3157dup (p.Ile1053fs) rs1603634199
NM_004006.3(DMD):c.3162+1G>A rs1335666832
NM_004006.3(DMD):c.3193del (p.Ala1065fs) rs1603634105
NM_004006.3(DMD):c.3257del (p.Lys1086fs) rs1569563740
NM_004006.3(DMD):c.3257dup (p.Gln1087fs) rs1569563740
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs) rs1603634079
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs) rs1557369413
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter) rs1603633868
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs) rs1603633864
NM_004006.3(DMD):c.356del (p.Gln119fs) rs1557058308
NM_004006.3(DMD):c.3603+1G>A rs1209389771
NM_004006.3(DMD):c.3603+1G>T rs1209389771
NM_004006.3(DMD):c.3603+2T>A rs146071084
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3603+2dup rs796523999
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer) rs398123943
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter) rs1339088514
NM_004006.3(DMD):c.3713del (p.Lys1238fs) rs1557362198
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter) rs1603633545
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter) rs1603633541
NM_004006.3(DMD):c.394C>T (p.Gln132Ter) rs2148807584
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs) rs2148194212
NM_004006.3(DMD):c.3980del (p.Ala1327fs) rs1603633486
NM_004006.3(DMD):c.39del (p.Glu14fs) rs1602766655
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs) rs2148193225
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter) rs2147935387
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter) rs1010666282
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter) rs1603632326
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs) rs1603632324
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.4315del (p.Arg1439fs) rs398123950
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter) rs1603632322
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4350dup (p.Leu1451fs) rs772220893
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter) rs1603632316
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs) rs2147613101
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter) rs128626248
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter) rs1603632314
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter) rs1603632311
NM_004006.3(DMD):c.444del (p.Arg149fs) rs1603437272
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs) rs1603632309
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer) rs1603632248
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter) rs1603437254
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter) rs1557320194
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter) rs1216000876
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter) rs771425504
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs) rs1603632119
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter) rs1603632117
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter) rs2147472174
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter) rs2147470742
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs) rs1569560475
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs) rs1603631756
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs) rs2147261153
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter) rs1603631744
NM_004006.3(DMD):c.5078del (p.Lys1693fs) rs2147253701
NM_004006.3(DMD):c.5131del (p.Gln1711fs) rs2147252708
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter) rs1603631705
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter) rs373428963
NM_004006.3(DMD):c.531-1G>C rs1569526579
NM_004006.3(DMD):c.5358del (p.Phe1786fs) rs1603631368
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5376del (p.Lys1792fs) rs1603631367
NM_004006.3(DMD):c.53del (p.Lys18fs) rs1602766531
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) rs2147031776
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter) rs1569559097
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter) rs1603631244
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter) rs1603631240
NM_004006.3(DMD):c.5689dup (p.Glu1897fs) rs1603631241
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.572C>A (p.Ser191Ter) rs794727863
NM_004006.3(DMD):c.5740-1G>T rs2148813707
NM_004006.3(DMD):c.574_577del (p.Ala192fs) rs2148751467
NM_004006.3(DMD):c.5821dup (p.Ala1941fs) rs1603631225
NM_004006.3(DMD):c.589G>T (p.Glu197Ter) rs1340365803
NM_004006.3(DMD):c.58del (p.Thr20fs) rs1602766499
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter) rs398124002
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter) rs1603630431
NM_004006.3(DMD):c.6151del (p.Arg2051fs) rs1603629988
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter) rs2148456401
NM_004006.3(DMD):c.6300del (p.Asp2100fs) rs1603628487
NM_004006.3(DMD):c.633dup (p.Leu212fs) rs2148750700
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter) rs1603628485
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter) rs1603628483
NM_004006.3(DMD):c.635_636dup (p.Leu213fs) rs1603432059
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs) rs1603628482
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs) rs2150188102
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter) rs2150187643
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs) rs863225007
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter) rs1603151699
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter) rs1603615883
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter) rs201818335
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter) rs1557010214
NM_004006.3(DMD):c.6913-1G>T rs1603514271
NM_004006.3(DMD):c.6913-2A>T rs1603514272
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter) rs374222301
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter) rs781054741
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter) rs2149680248
NM_004006.3(DMD):c.7027del (p.Trp2343fs) rs1603513828
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter) rs1603513817
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter) rs1603513803
NM_004006.3(DMD):c.7068del (p.Gln2356fs) rs1603513680
NM_004006.3(DMD):c.7098+1G>A rs1556962223
NM_004006.3(DMD):c.709C>T (p.Gln237Ter) rs2147605826
NM_004006.3(DMD):c.709del (p.Gln237fs) rs1603150993
NM_004006.3(DMD):c.7309+1G>T rs398124044
NM_004006.3(DMD):c.7309+4del rs2149424269
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs) rs2147605245
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter) rs1603452207
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.7661-2A>C rs1556806356
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter) rs1603445344
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter) rs1603445332
NM_004006.3(DMD):c.774dup (p.Lys259Ter) rs1603150335
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter) rs2148733515
NM_004006.3(DMD):c.7858dup (p.Ile2620fs) rs1603445283
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.7872+2T>A rs1603445277
NM_004006.3(DMD):c.799C>T (p.Gln267Ter) rs878854383
NM_004006.3(DMD):c.8027+1G>A rs1556789913
NM_004006.3(DMD):c.8027+1G>T rs1556789913
NM_004006.3(DMD):c.8028-1G>A rs2148423696
NM_004006.3(DMD):c.8145dup (p.Gln2716fs) rs1603430181
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter) rs1603430178
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter) rs1603149954
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter) rs1603280796
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter) rs1603280745
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs) rs2147176325
NM_004006.3(DMD):c.8326del (p.Gln2776fs) rs1603280686
NM_004006.3(DMD):c.8391-1G>A rs1603264731
NM_004006.3(DMD):c.839del (p.Val280fs) rs1603137168
NM_004006.3(DMD):c.8417del (p.Gln2806fs) rs1603264705
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter) rs2147075923
NM_004006.3(DMD):c.8451del (p.Leu2818fs) rs1603264659
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter) rs1603264641
NM_004006.3(DMD):c.8569del (p.Thr2857fs) rs1603226023
NM_004006.3(DMD):c.857dup (p.Tyr286Ter) rs1556929259
NM_004006.3(DMD):c.8669-2A>T rs794727770
NM_004006.3(DMD):c.8731del (p.Val2911fs) rs1603223025
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter) rs1603222922
NM_004006.3(DMD):c.8746del (p.Glu2916fs) rs1603222897
NM_004006.3(DMD):c.8797del (p.Glu2934fs) rs1603222574
NM_004006.3(DMD):c.8817del (p.Gln2940fs) rs1603222424
NM_004006.3(DMD):c.8923del (p.Leu2975fs) rs1603221854
NM_004006.3(DMD):c.8937+1G>C rs1556656077
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter) rs1602937974
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs) rs1602056443
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter) rs2148492200
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs) rs1601864055
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs) rs2148296981
NM_004006.3(DMD):c.9225-285A>G rs587776747
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter) rs2147649257
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs) rs1603253563
NM_004006.3(DMD):c.9281_9286+2del rs2147648412
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs) rs2147648529
NM_004006.3(DMD):c.9287-1G>A rs2147071925
NM_004006.3(DMD):c.93+1G>T rs886042604
NM_004006.3(DMD):c.9344del (p.Leu3115fs) rs1602947628
NM_004006.3(DMD):c.9362-1G>C rs2148593122
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter) rs1602730254
NM_004006.3(DMD):c.93_93+14del rs1602765633
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter) rs2148591514
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_004006.3(DMD):c.9563+1G>T rs886043989
NM_004006.3(DMD):c.9564-2A>G rs1602696519
NM_004006.3(DMD):c.961-1G>A rs1602469384
NM_004006.3(DMD):c.961-5831C>T rs398124099
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs) rs2148564018
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs) rs2148563899
NM_004006.3(DMD):c.9649+5G>C rs1602695527
NM_004006.3(DMD):c.971del (p.Ala324fs) rs1602469251
NM_004006.3(DMD):c.9730del (p.Ile3244fs) rs1602669026
NM_004006.3(DMD):c.9767del (p.Gly3256fs) rs398124103
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004006.3(DMD):c.9808-2A>T rs1602456486
NM_004006.3(DMD):c.9853dup (p.Met3285fs) rs2148335170
NM_004006.3(DMD):c.9868del (p.Gln3290fs) rs1602455747
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs) rs1602455302
NM_004006.3(DMD):c.9906del (p.Ala3303fs) rs2148334397
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs) rs1602454747
NM_004006.3(DMD):c.9974+2T>C rs2148333619
NM_004006.3(DMD):c.998C>A (p.Ser333Ter) rs1602468968
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) rs121434554
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla) rs193922941
NM_004643.4(PABPN1):c.15_26dup (p.Ala11_Gly12insAlaAlaAlaAla) rs1594987281
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter) rs747266069
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter) rs1187271694
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del) rs2122282189
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile) rs869320701
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser) rs762952740

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