ClinVar Miner

List of variants in gene DMD reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp21.1(chrX:31881035-31993637)x1
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
GRCh38/hg38 Xp21.1(chrX:31518752-31636035)x3
NC_000023.10:g.(?_31191636)_(31526374_?)dup
NC_000023.10:g.(?_31332523)_(31986651_?)dup
NC_000023.10:g.(?_31366653)_(31382270_?)dup
NC_000023.10:g.(?_31514885)_(31950364_?)dup
NC_000023.10:g.(?_31613687)_(31645989_?)dup
NC_000023.10:g.(?_31676087)_(31747885_?)dup
NC_000023.10:g.(?_31838072)_(31893510_?)dup
NC_000023.10:g.(?_31838072)_(31983146_?)dup
NC_000023.10:g.(?_31838072)_(32563471_?)dup
NC_000023.10:g.(?_31854815)_(31986651_?)dup
NC_000023.10:g.(?_32235013)_(32408318_?)dup
NC_000023.10:g.(?_32235013)_(32519979_?)dup
NC_000023.10:g.(?_32305626)_(32366665_?)dup
NC_000023.10:g.(?_32305636)_(32305828_?)dup
NC_000023.10:g.(?_32305636)_(32366860_?)dup
NC_000023.10:g.(?_32305636)_(32584008_?)dup
NC_000023.10:g.(?_32472769)_(32536267_?)dup
NC_000023.10:g.(?_32563276)_(32563451_?)dup
NC_000023.10:g.(?_32715967)_(32867957_?)dup
NC_000023.10:g.(?_32827610)_(33229673_?)dup
NC_000023.10:g.(?_32834585)_(32862977_?)dup
NC_000023.10:g.(?_32841392)_(32841524_?)dup
NC_000023.10:g.(?_32841412)_(32841504_?)dup
NC_000023.11:g.(?_31146281)_(31147536_?)dup
NC_000023.11:g.(?_31177922)_(31223131_?)dup
NC_000023.11:g.(?_31203951)_(31210914_?)dup
NC_000023.11:g.(?_31496778)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(31627872_?)dup
NC_000023.11:g.(?_31609621)_(31658154_?)del
NC_000023.11:g.(?_31609621)_(33020210_?)dup
NC_000023.11:g.(?_31627673)_(31658144_?)del
NC_000023.11:g.(?_31657980)_(31658154_?)dup
NC_000023.11:g.(?_31657980)_(31729758_?)dup
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_31679365)_(31679596_?)dup
NC_000023.11:g.(?_31679365)_(31729758_?)del
NC_000023.11:g.(?_31774439)_(31859356_?)del
NC_000023.11:g.(?_31836708)_(32310286_?)dup
NC_000023.11:g.(?_32070396)_(32212245_?)del
NC_000023.11:g.(?_32287519)_(32343296_?)dup
NC_000023.11:g.(?_32287519)_(32849830_?)dup
NC_000023.11:g.(?_32310072)_(32518150_?)dup
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_32362768)_(32365219_?)del
NC_000023.11:g.(?_32438231)_(32485109_?)dup
NC_000023.11:g.(?_32454652)_(32699303_?)dup
NC_000023.11:g.(?_32472154)_(32472319_?)dup
NC_000023.11:g.(?_32491267)_(32518150_?)dup
NC_000023.11:g.(?_32501745)_(32501852_?)dup
NC_000023.11:g.(?_32614293)_(32849830_?)dup
NC_000023.11:g.(?_32697850)_(32823850_?)del
NC_000023.11:g.(?_32697850)_(32849840_?)del
NC_000023.11:g.(?_32697860)_(32849830_?)del
NC_000023.11:g.31314406_31679596dup
NC_000023.11:g.31444471_31627872dup
NM_000109.4(DMD):c.10074_10076AGA[1] (p.Glu3359del) rs886042840
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.1788+601A>G rs1603636710
NM_000109.4(DMD):c.4047+1del rs1114167439
NM_000109.4(DMD):c.6889-11_6894del rs1556962571
NM_000109.4(DMD):c.7636+1G>C rs1556852444
NM_000109.4(DMD):c.8367-1_8367delinsAA rs1060502619
NM_000109.4(DMD):c.8367-2A>G rs1556665303
NM_000109.4(DMD):c.8524-2_8525dup rs1556656895
NM_000109.4(DMD):c.9626-4_9631del rs1060502653
NM_004006.2(DMD):c.10109G>C (p.Arg3370Pro) rs1556037455
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.10797+5G>A rs398123846
NM_004006.2(DMD):c.1304_1331+10del rs1556875089
NM_004006.2(DMD):c.1351G>T (p.Asp451Tyr) rs1602169535
NM_004006.2(DMD):c.1602G>A (p.Lys534=) rs1556834513
NM_004006.2(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.2292+2T>G rs1557396600
NM_004006.2(DMD):c.2804-1G>T rs398123909
NM_004006.2(DMD):c.3432+2036A>G rs182575709
NM_004006.2(DMD):c.357+1G>A rs1557058294
NM_004006.2(DMD):c.3922-3C>T rs786205603
NM_004006.2(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.2(DMD):c.4072-1G>T rs1060502637
NM_004006.2(DMD):c.4222C>T (p.Gln1408Ter) rs1057524291
NM_004006.2(DMD):c.434G>C (p.Arg145Pro) rs398123952
NM_004006.2(DMD):c.4846-1G>T rs1603631757
NM_004006.2(DMD):c.5026-2A>G rs1569559849
NM_004006.2(DMD):c.511G>C (p.Ala171Pro) rs755452188
NM_004006.2(DMD):c.5154+2T>C rs1569559822
NM_004006.2(DMD):c.5448+1G>A rs1064796764
NM_004006.2(DMD):c.5586+1G>A rs1557292599
NM_004006.2(DMD):c.6439-10_8217+32103dup
NM_004006.2(DMD):c.6614+3310G>T rs797045526
NM_004006.2(DMD):c.6762+3A>T rs1085307811
NM_004006.2(DMD):c.7085_7088dup (p.Asp2364fs) rs1556962271
NM_004006.2(DMD):c.7309+12789_7490del
NM_004006.2(DMD):c.8027+2T>A rs863225010
NM_004006.2(DMD):c.8217+18052A>G rs886042109
NM_004006.2(DMD):c.832-15A>G rs72470513
NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.2(DMD):c.8547+1G>A rs1556665052
NM_004006.2(DMD):c.9225-285A>G rs587776747
NM_004006.2(DMD):c.9225-647A>G rs398124091
NM_004006.2(DMD):c.9287-27_9287-2del rs1064792968
NM_004006.2(DMD):c.94_264dup
NM_004006.2(DMD):c.961-5831C>T rs398124099
NM_004006.2(DMD):c.9807+5G>A rs1569460607
NM_004006.2(DMD):c.9896A>G (p.His3299Arg) rs398124107
NM_004006.2(DMD):c.9938G>T (p.Cys3313Phe) rs886043597
NM_004006.2(DMD):c.9958C>A (p.Pro3320Thr) rs1131691677
NM_004006.2:c.94_3786dup
NM_004006.3(DMD):c.10211del (p.Asp3404fs) rs1114167437
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs) rs1601808175
NM_004006.3(DMD):c.1812+1G>A rs373286166
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.196A>T (p.Lys66Ter) rs1603447072
NM_004006.3(DMD):c.2461_2462GA[2] (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.2529del (p.Glu843fs) rs1603634743
NM_004006.3(DMD):c.2694dup (p.Glu899fs) rs1603634609
NM_004006.3(DMD):c.2803+5G>C rs1603634603
NM_004006.3(DMD):c.2949+2T>C
NM_004006.3(DMD):c.3162+1G>A
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3277-2A>T
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu)
NM_004006.3(DMD):c.479_481CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.5448+1G>T
NM_004006.3(DMD):c.5922+4A>G rs1603631218
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter) rs1603628479
NM_004006.3(DMD):c.650-1G>A
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.7309+1G>C rs398124044
NM_004006.3(DMD):c.832-2A>C
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
NM_004006.3(DMD):c.9085-2A>G
NM_004006.3(DMD):c.93+2T>A rs1602765856
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter)
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004006.3(DMD):c.9563+5G>C
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9807+2T>G
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu) rs1602454639
NM_004006.3(DMD):c.9971dup (p.Arg3325fs) rs1602454605
NM_004006.3(DMD):c.9980_9981insTAG (p.Arg3327_Ser3328insSer)
NM_004010.3(DMD):c.-193del rs1057518834
NM_004010.3(DMD):c.-291dup rs1057519180
NM_004013.2(DMD):c.-62dup rs1556880327
NM_004020.3(DMD):c.2843+6256_2843+6260dup rs1602360475
NM_004020.3(DMD):c.2843+9182_2843+9183del rs878854366
Single allele

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