ClinVar Miner

List of variants in gene DMD reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP
GRCh37/hg19 Xp21.1(chrX:31766614-31855217)x0
GRCh37/hg19 Xp21.1(chrX:31766614-31896429)x0
GRCh37/hg19 Xp21.1(chrX:31836968-31945018)x1
GRCh37/hg19 Xp21.1(chrX:31986184-31986956)x1
GRCh38/hg38 Xp21.1(chrX:31540244-32059446)x0
GRCh38/hg38 Xp21.1(chrX:31632068-31954142)x0
GRCh38/hg38 Xp21.1(chrX:31745624-31876916)x1
GRCh38/hg38 Xp21.1(chrX:32203741-32353533)x1
GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2
NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.2(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.2(DMD):c.10150del (p.Arg3384fs) rs886039663
NM_004006.2(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.2(DMD):c.10554-1dup rs1555998436
NM_004006.2(DMD):c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532delinsPheLysCysArgCysLysLysThrLeuLysLysLeuTer) rs886041629
NM_004006.2(DMD):c.10651C>T (p.Gln3551Ter) rs1064793742
NM_004006.2(DMD):c.1150-1G>A rs886043251
NM_004006.2(DMD):c.1288A>T (p.Arg430Ter) rs886041802
NM_004006.2(DMD):c.1602+1G>A rs1057517960
NM_004006.2(DMD):c.1724T>C (p.Leu575Pro) rs370644567
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.1865C>G (p.Ser622Ter) rs886041344
NM_004006.2(DMD):c.1977_1981del (p.Lys660fs) rs1556802365
NM_004006.2(DMD):c.2168+1G>A rs1057518207
NM_004006.2(DMD):c.2257G>T (p.Glu753Ter) rs1557396632
NM_004006.2(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.2(DMD):c.2555G>A (p.Trp852Ter) rs1064793964
NM_004006.2(DMD):c.2623-1G>T rs794729005
NM_004006.2(DMD):c.2803+1G>T rs398123908
NM_004006.2(DMD):c.2956C>T (p.Gln986Ter) rs727503844
NM_004006.2(DMD):c.31+1G>T rs398123923
NM_004006.2(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.2(DMD):c.3259C>T (p.Gln1087Ter) rs886039536
NM_004006.2(DMD):c.3295C>T (p.Gln1099Ter) rs398123935
NM_004006.2(DMD):c.3363_3364AG[3] (p.Phe1123fs) rs1057518284
NM_004006.2(DMD):c.3487C>T (p.Gln1163Ter) rs1064793986
NM_004006.2(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004006.2(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.2(DMD):c.4538_4541del (p.Ser1513fs) rs1064793479
NM_004006.2(DMD):c.4540_4544GAAGT[1] (p.Val1515_Lys1516insTer) rs398123962
NM_004006.2(DMD):c.4546A>T (p.Lys1516Ter) rs1569560626
NM_004006.2(DMD):c.4675-11A>G rs1557316295
NM_004006.2(DMD):c.468delinsGG (p.Ile157fs) rs1557052599
NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter) rs863224999
NM_004006.2(DMD):c.4870C>T (p.Gln1624Ter) rs762250680
NM_004006.2(DMD):c.5024T>A (p.Leu1675Ter) rs1557305418
NM_004006.2(DMD):c.5082G>A (p.Trp1694Ter) rs1295394996
NM_004006.2(DMD):c.5131C>T (p.Gln1711Ter) rs863225001
NM_004006.2(DMD):c.5274_5275AG[1] (p.Glu1759fs) rs886041653
NM_004006.2(DMD):c.531-2A>G rs398123985
NM_004006.2(DMD):c.5314A>T (p.Lys1772Ter) rs886039535
NM_004006.2(DMD):c.5533G>T (p.Glu1845Ter) rs1354256883
NM_004006.2(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.2(DMD):c.5758C>T (p.Gln1920Ter) rs1057520764
NM_004006.2(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.2(DMD):c.5872G>T (p.Glu1958Ter) rs1057524825
NM_004006.2(DMD):c.5917C>T (p.Gln1973Ter) rs863225005
NM_004006.2(DMD):c.5984del (p.Tyr1995fs) rs1131691292
NM_004006.2(DMD):c.6290+1G>C rs886041527
NM_004006.2(DMD):c.6317G>A (p.Trp2106Ter) rs1557218269
NM_004006.2(DMD):c.6611dup (p.Arg2205fs) rs863225007
NM_004006.2(DMD):c.673_675AAG[1] (p.Lys226del) rs398124034
NM_004006.2(DMD):c.6762+1G>T rs886039534
NM_004006.2(DMD):c.7555G>A (p.Asp2519Asn) rs771877780
NM_004006.2(DMD):c.8077C>T (p.Gln2693Ter) rs1556764922
NM_004006.2(DMD):c.8218-2A>G rs886039478
NM_004006.2(DMD):c.8390+1G>A rs1064794569
NM_004006.2(DMD):c.8575G>T (p.Glu2859Ter) rs1556656851
NM_004006.2(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.2(DMD):c.9148C>T (p.Gln3050Ter) rs886039533
NM_004006.2(DMD):c.9200_9203CAAA[1] (p.Asn3068fs) rs863225015
NM_004006.2(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.2(DMD):c.9370_9371del (p.Leu3124fs) rs1064793644
NM_004006.2(DMD):c.9471_9474del (p.Ile3157fs) rs886039532
NM_004006.2(DMD):c.9503del (p.Leu3168fs) rs886039681
NM_004006.2(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.2(DMD):c.9691C>T (p.Gln3231Ter) rs1556235825
NM_004006.2(DMD):c.9862G>T (p.Glu3288Ter) rs398124106
NM_004006.2(DMD):c.9G>A (p.Trp3Ter) rs398122853

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