ClinVar Miner

List of variants in gene DMD reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3604-12T>A rs183613970 0.00123
NM_004006.3(DMD):c.3162+4A>G rs189048508 0.00046
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala) rs376720228 0.00013
NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala) rs373898385 0.00008
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val) rs751145927 0.00008
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr) rs137898199 0.00007
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter) rs1477369230 0.00006
NM_004006.3(DMD):c.2362G>T (p.Val788Leu) rs756267575 0.00005
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu) rs144754029 0.00005
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile) rs758654750 0.00005
NM_004006.3(DMD):c.940C>T (p.Arg314Trp) rs764526102 0.00005
NM_004006.3(DMD):c.2251C>T (p.Arg751Trp) rs373475448 0.00004
NM_004006.3(DMD):c.9563C>T (p.Thr3188Met) rs1026613996 0.00004
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg) rs1131691998 0.00003
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser) rs889238270 0.00003
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro) rs766325631 0.00003
NM_004006.3(DMD):c.626T>C (p.Ile209Thr) rs372832497 0.00003
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln) rs756238158 0.00003
NM_004006.3(DMD):c.9265A>T (p.Thr3089Ser) rs776860944 0.00003
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg) rs1216968523 0.00002
NM_004006.3(DMD):c.1823C>T (p.Ala608Val) rs189896732 0.00002
NM_004006.3(DMD):c.367G>A (p.Val123Ile) rs757220688 0.00002
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly) rs759820971 0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His) rs768990357 0.00002
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu) rs763028318 0.00002
NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe) rs749533073 0.00002
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.10554-4A>G rs398123841 0.00001
NM_004006.3(DMD):c.10567G>C (p.Glu3523Gln) rs1131691670 0.00001
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile) rs773299186 0.00001
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu) rs863224981 0.00001
NM_004006.3(DMD):c.1523A>G (p.Asn508Ser) rs886044658 0.00001
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys) rs778354538 0.00001
NM_004006.3(DMD):c.1649G>A (p.Arg550His) rs1424295439 0.00001
NM_004006.3(DMD):c.1739A>G (p.Asp580Gly) rs1246969208 0.00001
NM_004006.3(DMD):c.2645A>T (p.Asp882Val) rs228406 0.00001
NM_004006.3(DMD):c.3029C>A (p.Ala1010Glu) rs780896933 0.00001
NM_004006.3(DMD):c.3492A>T (p.Lys1164Asn) rs1032762656 0.00001
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser) rs778145106 0.00001
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004006.3(DMD):c.4048C>T (p.Arg1350Cys) rs1278483491 0.00001
NM_004006.3(DMD):c.5149C>T (p.Leu1717Phe) rs769383291 0.00001
NM_004006.3(DMD):c.5233C>T (p.Arg1745Cys) rs1326450715 0.00001
NM_004006.3(DMD):c.5750G>A (p.Arg1917Gln) rs760528813 0.00001
NM_004006.3(DMD):c.5785G>C (p.Val1929Leu) rs794729004 0.00001
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser) rs900089672 0.00001
NM_004006.3(DMD):c.6713T>C (p.Leu2238Pro) rs1263279166 0.00001
NM_004006.3(DMD):c.697A>G (p.Thr233Ala) rs1429767974 0.00001
NM_004006.3(DMD):c.7570C>T (p.Arg2524Cys) rs886043732 0.00001
NM_004006.3(DMD):c.8488C>T (p.Arg2830Trp) rs1569547242 0.00001
NM_004006.3(DMD):c.8628G>C (p.Gln2876His) rs777817144 0.00001
NM_004006.3(DMD):c.9667G>T (p.Ala3223Ser) rs1319200626 0.00001
GRCh37/hg19 Xp21.1(chrX:32620055-33514149)x2
GRCh38/hg38 Xp21.1(chrX:32720062-32797373)x2
NM_004006.3(DMD):c.*57_*60dup rs1327332363
NM_004006.3(DMD):c.10134_10136del (p.Asn3378del) rs2148291719
NM_004006.3(DMD):c.10232C>A (p.Thr3411Asn) rs1042981379
NM_004006.3(DMD):c.10270_10275del (p.Ser3424_Ser3425del)
NM_004006.3(DMD):c.10801C>G (p.Gln3601Glu)
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile) rs1555996685
NM_004006.3(DMD):c.10932TCT[1] (p.Leu3646del) rs2147775174
NM_004006.3(DMD):c.1144C>T (p.His382Tyr) rs1556876180
NM_004006.3(DMD):c.1153T>C (p.Tyr385His) rs2059650911
NM_004006.3(DMD):c.1245T>G (p.Asp415Glu) rs2146820271
NM_004006.3(DMD):c.1315A>G (p.Met439Val) rs1569373322
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg) rs1556853018
NM_004006.3(DMD):c.1635A>T (p.Arg545Ser) rs5927083
NM_004006.3(DMD):c.1639A>G (p.Thr547Ala) rs2052707401
NM_004006.3(DMD):c.170T>C (p.Leu57Pro) rs886044431
NM_004006.3(DMD):c.1753A>G (p.Ile585Val) rs1085307667
NM_004006.3(DMD):c.1826A>G (p.Asp609Gly) rs2149095572
NM_004006.3(DMD):c.187-10_187-6del rs1557079581
NM_004006.3(DMD):c.1939T>A (p.Phe647Ile) rs1057524872
NM_004006.3(DMD):c.1961T>C (p.Leu654Ser) rs1057518312
NM_004006.3(DMD):c.1993-13A>G
NM_004006.3(DMD):c.1998A>T (p.Ser666=) rs1289591017
NM_004006.3(DMD):c.2048A>G (p.Glu683Gly) rs2048862731
NM_004006.3(DMD):c.230T>A (p.Val77Asp) rs886042956
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) rs794727226
NM_004006.3(DMD):c.245G>C (p.Arg82Pro) rs1228664222
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys) rs1429329309
NM_004006.3(DMD):c.2734G>A (p.Val912Met) rs201549805
NM_004006.3(DMD):c.2810A>C (p.Asp937Ala) rs768386277
NM_004006.3(DMD):c.2887T>A (p.Ser963Thr)
NM_004006.3(DMD):c.2931G>T (p.Gln977His) rs759350909
NM_004006.3(DMD):c.3334G>A (p.Gly1112Arg) rs777598938
NM_004006.3(DMD):c.3411G>T (p.Gln1137His)
NM_004006.3(DMD):c.3766G>T (p.Gly1256Trp) rs2148287402
NM_004006.3(DMD):c.385G>A (p.Ala129Thr) rs1085307548
NM_004006.3(DMD):c.4022A>T (p.Asn1341Ile)
NM_004006.3(DMD):c.428G>T (p.Trp143Leu) rs1452761489
NM_004006.3(DMD):c.4299G>T (p.Gly1433=) rs1174990294
NM_004006.3(DMD):c.4307C>G (p.Ala1436Gly)
NM_004006.3(DMD):c.4852C>G (p.Gln1618Glu) rs1085307535
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg) rs1603631755
NM_004006.3(DMD):c.5409G>T (p.Gln1803His)
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly) rs376202643
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile) rs794729000
NM_004006.3(DMD):c.6296T>C (p.Phe2099Ser) rs1229763776
NM_004006.3(DMD):c.652G>A (p.Val218Ile) rs1085307594
NM_004006.3(DMD):c.6530A>G (p.Asp2177Gly) rs2150187516
NM_004006.3(DMD):c.690G>T (p.Met230Ile) rs2147606511
NM_004006.3(DMD):c.7456C>T (p.Leu2486Phe)
NM_004006.3(DMD):c.755A>G (p.Glu252Gly)
NM_004006.3(DMD):c.7654G>A (p.Asp2552Asn) rs794729001
NM_004006.3(DMD):c.7795G>T (p.Ala2599Ser) rs1569220550
NM_004006.3(DMD):c.7967C>G (p.Thr2656Ser)
NM_004006.3(DMD):c.8006C>T (p.Ser2669Phe)
NM_004006.3(DMD):c.8333G>A (p.Arg2778His) rs2071050854
NM_004006.3(DMD):c.8413G>A (p.Asp2805Asn)
NM_004006.3(DMD):c.844C>A (p.Leu282Ile) rs1188593868
NM_004006.3(DMD):c.8960C>A (p.Pro2987His) rs2149075905
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys) rs769658853
NM_004006.3(DMD):c.9225-15T>G rs2147649892
NM_004006.3(DMD):c.9299A>G (p.Asn3100Ser) rs794729002
NM_004006.3(DMD):c.932A>G (p.Asp311Gly) rs760932600
NM_004006.3(DMD):c.9388T>C (p.Cys3130Arg) rs932848232
NM_004006.3(DMD):c.9472T>A (p.Tyr3158Asn) rs2148591743
NM_004006.3(DMD):c.9749A>C (p.Glu3250Ala) rs2148540881

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