ClinVar Miner

List of variants in gene DMD reported as likely pathogenic

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Gene type:
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Total variants: 82
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HGVS dbSNP
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp21.1(chrX:31881035-31993637)x1
GRCh38/hg38 Xp21.1(chrX:31518752-31636035)x3
LRG_199t1:c.94_3786dup
NC_000023.10:g.(?_31514885)_(31950364_?)dup
NC_000023.10:g.31973924_32017000dup
NC_000023.11:g.(?_31173519)_(31508257_?)dup
NC_000023.11:g.(?_31314406)_(31968534_?)dup
NC_000023.11:g.(?_31348536)_(31364153_?)dup
NC_000023.11:g.(?_31627673)_(31658144_?)del
NC_000023.11:g.(?_31657970)_(31729768_?)dup
NC_000023.11:g.(?_31657970)_(31932247_?)del
NC_000023.11:g.(?_31660226)_(31820401_?)del
NC_000023.11:g.(?_31774439)_(31859356_?)del
NC_000023.11:g.(?_31819955)_(31965029_?)dup
NC_000023.11:g.(?_31819955)_(32545354_?)dup
NC_000023.11:g.(?_31836698)_(31968534_?)dup
NC_000023.11:g.(?_32070396)_(32212245_?)del
NC_000023.11:g.(?_32216896)_(32390201_?)dup
NC_000023.11:g.(?_32216896)_(32472329_?)dup
NC_000023.11:g.(?_32345828)_(32377888_?)del
NC_000023.11:g.(?_32362768)_(32365219_?)del
NC_000023.11:g.(?_32545159)_(32545334_?)dup
NC_000023.11:g.(?_32697850)_(32823850_?)del
NC_000023.11:g.(?_32697850)_(32849840_?)del
NC_000023.11:g.(?_32697850)_(32849840_?)dup
NC_000023.11:g.(?_32809493)_(33211556_?)dup
NC_000023.11:g.(?_32816468)_(32844860_?)dup
NC_000023.11:g.(?_32823275)_(32823407_?)dup
NC_000023.11:g.(?_32823295)_(32823387_?)dup
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.3(DMD):c.8367-2A>G rs1556665303
NM_004006.2(DMD):c.10211delA (p.Asp3404Alafs) rs1114167437
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.10509_10510del (p.Glu3505Alafs) rs878854366
NM_004006.2(DMD):c.10797+1G>A rs1060502626
NM_004006.2(DMD):c.1149+1G>A rs1060502634
NM_004006.2(DMD):c.1304_1331+10del rs1556875089
NM_004006.2(DMD):c.1602G>A (p.Lys534=) rs1556834513
NM_004006.2(DMD):c.170T>G (p.Leu57Arg)
NM_004006.2(DMD):c.177delG (p.Gln60Lysfs) rs1057518834
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.2117C>A (p.Pro706Gln) rs781015830
NM_004006.2(DMD):c.2292+2T>G rs1557396600
NM_004006.2(DMD):c.31+1G>C rs398123923
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.4071+1delG rs1114167439
NM_004006.2(DMD):c.4072-1G>T rs1060502637
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
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.482_484delCCA (p.Thr161del)
NM_004006.2(DMD):c.5026-2A>G
NM_004006.2(DMD):c.511G>C (p.Ala171Pro) rs755452188
NM_004006.2(DMD):c.5154+2T>C
NM_004006.2(DMD):c.5448+1G>A rs1064796764
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.2(DMD):c.5586+1G>A rs1557292599
NM_004006.2(DMD):c.650-39498A>G rs1556980528
NM_004006.2(DMD):c.6614+3310G>T rs797045526
NM_004006.2(DMD):c.6913-11_6918del rs1556962571
NM_004006.2(DMD):c.7085_7088dup (p.Asp2364Ilefs) rs1556962271
NM_004006.2(DMD):c.7309+12789_7490del
NM_004006.2(DMD):c.7319dup (p.Thr2441Aspfs) rs1556880327
NM_004006.2(DMD):c.7660+1G>C rs1556852444
NM_004006.2(DMD):c.79_80insG (p.Ala27Glyfs) rs1057519180
NM_004006.2(DMD):c.8217+18052A>G rs886042109
NM_004006.2(DMD):c.832-15A>G rs72470513
NM_004006.2(DMD):c.8391-1_8391delGGinsAA rs1060502619
NM_004006.2(DMD):c.8459G>A (p.Trp2820Ter) rs886039785
NM_004006.2(DMD):c.8547+1G>A rs1556665052
NM_004006.2(DMD):c.8548-2_8549dup rs1556656895
NM_004006.2(DMD):c.9225-647A>G rs398124091
NM_004006.2(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004006.2(DMD):c.961-5831C>T rs398124099
NM_004006.2(DMD):c.9650-4_9655delGTAGACCTTT rs1060502653
NM_004006.2(DMD):c.9958C>A (p.Pro3320Thr) rs1131691677
NM_004006.2:c.94_264dup
NM_004010.3(DMD):c.631T>A (p.Leu211Met) rs1280415176

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