ClinVar Miner

List of variants reported as pathogenic for Becker muscular dystrophy

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ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter) rs1295935628 0.00001
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
GRCh37/hg19 Xp21.1(chrX:31853996-31855256)
NC_000023.11:g.32390170_32390182del rs2147621477
NC_000023.11:g.32565874_32565883dup rs2149095626
NC_000023.11:g.[23617262_23617265del;23617266_31168033inv;31168034_31168042delinsACATTAGCCCATGTCAGAAATTTCTAACATTAGCC] rs2146758648
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs) rs886043375
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10223+4A>G rs2148290215
NM_004006.3(DMD):c.10223+5G>C rs2148290176
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10477del (p.Gln3493fs) rs2148183751
NM_004006.3(DMD):c.10677dup (p.Ala3560fs) rs2147934458
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1098dup (p.Glu367fs) rs2146833198
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter) rs1556875224
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.14_15delinsT (p.Glu5fs) rs796065325
NM_004006.3(DMD):c.1594C>T (p.Gln532Ter) rs763936813
NM_004006.3(DMD):c.1602+2T>A rs2149264374
NM_004006.3(DMD):c.1602G>T (p.Lys534Asn) rs1556834513
NM_004006.3(DMD):c.1603-1G>T
NM_004006.3(DMD):c.1704+1G>T rs794727123
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter) rs2149095319
NM_004006.3(DMD):c.1941dup (p.Ala648fs) rs2149094788
NM_004006.3(DMD):c.208A>T (p.Arg70Ter) rs2080510348
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs) rs2148804513
NM_004006.3(DMD):c.2293-2_2294del rs2148691727
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+3A>C rs1569564916
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2499del (p.Ile833fs) rs2148631657
NM_004006.3(DMD):c.261_264+3del rs2148984206
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter) rs1557380616
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter) rs1557380616
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.3162+1G>A rs1335666832
NM_004006.3(DMD):c.3257dup (p.Gln1087fs) rs1569563740
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3562A>T (p.Lys1188Ter) rs2148348451
NM_004006.3(DMD):c.3631G>T (p.Glu1211Ter) rs267606771
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
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.4052_4053insCC (p.Trp1351fs) rs2148193225
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter) rs2147935387
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs) rs2147613101
NM_004006.3(DMD):c.4405C>T (p.Gln1469Ter) rs398123954
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.4872_4873del (p.Lys1625fs) rs2147261153
NM_004006.3(DMD):c.494A>T (p.Asp165Val) rs1557052542
NM_004006.3(DMD):c.503C>A (p.Ala168Asp) rs128626236
NM_004006.3(DMD):c.5078del (p.Lys1693fs) rs2147253701
NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.3(DMD):c.5131del (p.Gln1711fs) rs2147252708
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs) rs2147031776
NM_004006.3(DMD):c.5632C>T (p.Gln1878Ter) rs2146992010
NM_004006.3(DMD):c.5740-1G>T rs2148813707
NM_004006.3(DMD):c.574_577del (p.Ala192fs) rs2148751467
NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) rs794727666
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter) rs398124002
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter) rs2148456401
NM_004006.3(DMD):c.630del (p.Lys211fs) rs1557047827
NM_004006.3(DMD):c.633dup (p.Leu212fs) rs2148750700
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs) rs2150188102
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter) rs779739455
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter) rs2150187643
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter) rs1557010214
NM_004006.3(DMD):c.691T>A (p.Tyr231Asn) rs128626237
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.709C>T (p.Gln237Ter) rs2147605826
NM_004006.3(DMD):c.7309+4del rs2149424269
NM_004006.3(DMD):c.7310-1G>A rs1556880354
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs) rs2147605245
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.7661-2A>C rs1556806356
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter) rs2148733515
NM_004006.3(DMD):c.7855A>T (p.Lys2619Ter) rs2148732436
NM_004006.3(DMD):c.8028-1G>A rs2148423696
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs) rs2147176325
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter) rs2147075923
NM_004006.3(DMD):c.8548-1G>C rs1569546198
NM_004006.3(DMD):c.8668+1G>A rs2149256957
NM_004006.3(DMD):c.883C>T (p.Arg295Ter) rs727503864
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter) rs2148492200
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.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.9362-1G>C rs2148593122
NM_004006.3(DMD):c.94-1G>T rs863225016
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter) rs2148591514
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.9767del (p.Gly3256fs) rs398124103
NM_004006.3(DMD):c.9808-2A>G rs1602456486
NM_004006.3(DMD):c.9853dup (p.Met3285fs) rs2148335170
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs) rs398124105
NM_004006.3(DMD):c.9906del (p.Ala3303fs) rs2148334397
NM_004006.3(DMD):c.9974+2T>C rs2148333619
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3:c.(1602+1_1603-1)_(6438+1_6439-1)del
Single allele

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