ClinVar Miner

List of variants in gene DMD reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_004006.3(DMD):c.9564-97C>T rs2293667 0.84251
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_004006.3(DMD):c.1993-37T>G rs115571 0.71699
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_004006.3(DMD):c.5025+103G>A rs5927975 0.45628
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_004006.3(DMD):c.94-133G>A rs3764763 0.35695
NM_004006.3(DMD):c.*1447A>G rs3361 0.34706
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.3921+128C>T rs41303185 0.32572
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_004006.3(DMD):c.6439-143G>A rs3761605 0.29636
NM_004006.3(DMD):c.6614+26G>T rs3761604 0.28231
NM_004006.3(DMD):c.9163+189G>T rs6628596 0.25985
NM_004006.3(DMD):c.8218-630G>A rs3788893 0.23707
NM_004006.3(DMD):c.8218-1069G>A rs16989681 0.23626
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_004006.3(DMD):c.5739+218G>A rs7891425 0.21140
NM_004006.3(DMD):c.5740-67G>T rs6527184 0.16820
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_004006.3(DMD):c.7309+176T>C rs17341004 0.15663
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_004006.3(DMD):c.7543-156C>G rs5927823 0.12710
NM_004006.3(DMD):c.8668+209C>T rs66517855 0.12381
NM_004006.3(DMD):c.10797+82G>A rs1484852 0.12268
NM_004006.3(DMD):c.6290+27T>A rs3788896 0.12062
NM_004006.3(DMD):c.10797+135A>G rs3816796 0.11031
NM_004006.3(DMD):c.10921+183A>G rs7066986 0.09906
NM_004006.3(DMD):c.1704+51T>C rs5927082 0.09293
NM_004006.3(DMD):c.10798-110A>C rs59170794 0.07996
NM_004006.3(DMD):c.9164-145A>G rs7059188 0.07947
NM_004006.3(DMD):c.6438+61366A>G rs55672607 0.07241
NM_004006.3(DMD):c.1483-72T>C rs17309542 0.07230
NM_004006.3(DMD):c.1812+118A>G rs66481382 0.06944
NM_004006.3(DMD):c.8669-75C>G rs17338583 0.06936
NM_004006.3(DMD):c.3921+146C>G rs66596198 0.06791
NM_004006.3(DMD):c.6762+141C>T rs16989970 0.05500
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_004006.3(DMD):c.1992+195A>T rs6653877 0.05025
NM_004006.3(DMD):c.1331+55A>G rs6628728 0.04809
NM_004006.3(DMD):c.6762+184T>C rs72466597 0.04509
NM_004006.3(DMD):c.6615-58A>C rs72466598 0.04336
NM_004006.3(DMD):c.1483-67A>T rs1435727 0.04077
NM_004006.3(DMD):c.5586+30G>A rs72468623 0.03997
NM_004006.3(DMD):c.10223+221G>A rs200389975 0.03916
NM_004006.2(DMD):c.-127843C>T rs73463959 0.03752
NM_004006.2(DMD):c.-128163A>G rs5927163 0.03729
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_004006.3(DMD):c.10798-100G>C rs17340575 0.02229
NM_004006.3(DMD):c.*1783A>G rs7886658 0.02227
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.10921+133C>T rs72466536 0.02131
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_004006.3(DMD):c.11046+119A>G rs72466532 0.02102
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_004006.3(DMD):c.2949+127T>G rs72468673 0.02067
NM_004006.3(DMD):c.1482+91G>C rs12010638 0.02041
NM_004006.3(DMD):c.3163-44G>A rs192568451 0.01833
NM_004006.3(DMD):c.832-54A>G rs41303183 0.01801
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_004006.3(DMD):c.9287-119A>G rs72466557 0.01575
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_004006.3(DMD):c.4344+17A>T rs72468646 0.01496
NM_004006.3(DMD):c.*1638A>G rs142520583 0.01412
NM_004006.3(DMD):c.9225-5912C>T rs145666976 0.01288
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_004006.3(DMD):c.9975-79G>A rs12558839 0.01161
NM_004006.3(DMD):c.6118-63A>T rs72468612 0.01152
NM_004006.3(DMD):c.4675-53G>T rs72468636 0.01146
NM_004006.3(DMD):c.2380+47A>G rs67750310 0.01140
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_004006.3(DMD):c.3432+36C>T rs72468659 0.01055
NM_004006.3(DMD):c.7310-36C>T rs72466586 0.01045
NM_004006.3(DMD):c.4519-34T>A rs72468639 0.01027
NM_004006.3(DMD):c.9225-5727G>A rs370184176 0.01019
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_004006.3(DMD):c.9650-64C>T rs72466549 0.00999
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_004006.3(DMD):c.5326-54A>C rs41309607 0.00904
NM_004006.3(DMD):c.832-44T>A rs72470516 0.00858
NM_004006.3(DMD):c.7661-61T>A rs72466582 0.00854
NM_004006.3(DMD):c.5586+52A>G rs72468622 0.00812
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_004006.3(DMD):c.831+95A>T rs72470518 0.00772
NM_004006.3(DMD):c.9286+166A>T rs186287760 0.00767
NM_004006.3(DMD):c.9286+151G>A rs113762299 0.00766
NM_004006.3(DMD):c.186+35A>T rs72470531 0.00723
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_004006.3(DMD):c.31+83313T>C rs147546024 0.00694
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_004006.3(DMD):c.10797+42C>G rs72466537 0.00580
NM_004006.3(DMD):c.3277-30C>T rs72468660 0.00559
NM_004006.3(DMD):c.2622+33A>G rs72468678 0.00546
NM_004006.3(DMD):c.8028-114C>A rs72466579 0.00527
NM_004006.3(DMD):c.2804-87A>C rs72468675 0.00516
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004006.3(DMD):c.1602+108A>G rs114234605 0.00473
NM_004006.3(DMD):c.1331+26A>G rs41303189 0.00472
NM_004006.3(DMD):c.10087-77G>C rs143341281 0.00450
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_004006.3(DMD):c.5325+156A>G rs143268615 0.00395
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_004006.3(DMD):c.6439-38G>A rs67729860 0.00336
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_004006.3(DMD):c.8218-798G>A rs149479376 0.00299
NM_004006.3(DMD):c.2949+37G>A rs72468674 0.00266
NM_004006.3(DMD):c.10087-24A>G rs72466541 0.00242
NM_004006.3(DMD):c.5326-22G>T rs72468627 0.00231
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_004006.3(DMD):c.8571T>C (p.Thr2857=) rs72466570 0.00153
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_004006.3(DMD):c.1813-38A>C rs141034376 0.00073
NM_004006.3(DMD):c.2381-3T>C rs147931243 0.00048
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_004006.3(DMD):c.2380+10C>T rs372330460 0.00027
NM_004006.3(DMD):c.5026-45T>C rs202187025 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004006.3(DMD):c.-188C>T rs886043394 0.00018
NM_004006.3(DMD):c.1603-49G>A rs186987260 0.00018
NM_004006.3(DMD):c.2557T>C (p.Leu853=) rs150387101 0.00009
NM_004006.3(DMD):c.8712A>G (p.Leu2904=) rs764631900 0.00007
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys) rs766716563 0.00005
NM_004006.3(DMD):c.3114G>A (p.Glu1038=) rs143810752 0.00003
NM_004006.3(DMD):c.5784A>G (p.Ala1928=) rs922803283 0.00003
NM_004006.3(DMD):c.3960A>G (p.Pro1320=) rs765256995 0.00002
NM_004006.3(DMD):c.6285A>G (p.Arg2095=) rs1047077632 0.00001
NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln) rs892121336 0.00001
NM_004006.3(DMD):c.8865G>A (p.Val2955=) rs374478841 0.00001
NM_004006.3(DMD):c.*1033TGAT[4] rs71860126
NM_004006.3(DMD):c.*1033TGAT[6] rs71860126
NM_004006.3(DMD):c.10328+67G>A rs2404496
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter) rs2098349366
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter) rs1603632322
NM_004006.3(DMD):c.5058G>T (p.Gln1686His)
NM_004006.3(DMD):c.5155-63T>A rs12387861
NM_004006.3(DMD):c.5739+39T>A rs72468617
NM_004006.3(DMD):c.5801A>T (p.Glu1934Val) rs878854620
NM_004006.3(DMD):c.633dup (p.Leu212fs) rs2148750700
NM_004006.3(DMD):c.6505A>G (p.Ile2169Val) rs2095370242
NM_004006.3(DMD):c.7200+53C>G rs1379871
NM_004006.3(DMD):c.8669-85C>T rs72466568

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