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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 177

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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.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.6101A>T (p.Gln2034Leu)	rs144754029	0.00002
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)	rs368114420	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.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.3134A>T (p.Glu1045Val)	rs373495745	0.00001
NM_004006.3(DMD):c.3361C>T (p.Pro1121Ser)	rs150653420	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.6083T>C (p.Phe2028Ser)	rs1289456469	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.8072T>C (p.Leu2691Pro)	rs748485762	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.10009T>A (p.Cys3337Ser)
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.1024G>A (p.Asp342Asn)
NM_004006.3(DMD):c.10270_10275del (p.Ser3424_Ser3425del)
NM_004006.3(DMD):c.10697G>A (p.Arg3566His)	rs2147934267
NM_004006.3(DMD):c.10801C>G (p.Gln3601Glu)
NM_004006.3(DMD):c.10826C>T (p.Thr3609Ile)	rs1555996685
NM_004006.3(DMD):c.10921+5G>C	rs398123848
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.121T>G (p.Phe41Val)
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.1409G>C (p.Arg470Thr)
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)	rs1556853018
NM_004006.3(DMD):c.1483-3C>G
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.1703A>T (p.Gln568Leu)
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.1775A>G (p.Asp592Gly)
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.2084T>G (p.Leu695Arg)	rs1556780761
NM_004006.3(DMD):c.2139G>T (p.Gln713His)
NM_004006.3(DMD):c.2199C>A (p.Ser733Arg)
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.2447G>T (p.Cys816Phe)
NM_004006.3(DMD):c.245G>C (p.Arg82Pro)	rs1228664222
NM_004006.3(DMD):c.2489ACA[1] (p.Asn831del)	rs771166460
NM_004006.3(DMD):c.2556G>T (p.Trp852Cys)	rs1429329309
NM_004006.3(DMD):c.2686G>A (p.Ala896Thr)
NM_004006.3(DMD):c.2725G>A (p.Ala909Thr)	rs1060502616
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.2917G>C (p.Glu973Gln)
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.3382G>C (p.Glu1128Gln)	rs794728998
NM_004006.3(DMD):c.3411G>T (p.Gln1137His)
NM_004006.3(DMD):c.3592G>A (p.Glu1198Lys)
NM_004006.3(DMD):c.3643A>G (p.Lys1215Glu)
NM_004006.3(DMD):c.3766G>T (p.Gly1256Trp)	rs2148287402
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)	rs760733415
NM_004006.3(DMD):c.385G>A (p.Ala129Thr)	rs1085307548
NM_004006.3(DMD):c.3938T>C (p.Met1313Thr)
NM_004006.3(DMD):c.401C>G (p.Thr134Ser)
NM_004006.3(DMD):c.4022A>T (p.Asn1341Ile)
NM_004006.3(DMD):c.4268G>C (p.Ser1423Thr)
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.4376G>T (p.Arg1459Leu)
NM_004006.3(DMD):c.4468A>C (p.Thr1490Pro)	rs2147611427
NM_004006.3(DMD):c.4707C>G (p.Cys1569Trp)
NM_004006.3(DMD):c.4852C>G (p.Gln1618Glu)	rs1085307535
NM_004006.3(DMD):c.488G>C (p.Trp163Ser)
NM_004006.3(DMD):c.4890T>A (p.Ser1630Arg)	rs1603631755
NM_004006.3(DMD):c.4980G>T (p.Trp1660Cys)
NM_004006.3(DMD):c.5409G>T (p.Gln1803His)
NM_004006.3(DMD):c.5418T>G (p.Asn1806Lys)
NM_004006.3(DMD):c.5419C>A (p.Leu1807Met)
NM_004006.3(DMD):c.5521G>C (p.Glu1841Gln)
NM_004006.3(DMD):c.5537A>C (p.Glu1846Ala)
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly)	rs376202643
NM_004006.3(DMD):c.589G>A (p.Glu197Lys)
NM_004006.3(DMD):c.6049C>T (p.Leu2017Phe)
NM_004006.3(DMD):c.6053T>C (p.Leu2018Pro)
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.6427T>C (p.Trp2143Arg)
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.6812A>G (p.Asn2271Ser)
NM_004006.3(DMD):c.690G>T (p.Met230Ile)	rs2147606511
NM_004006.3(DMD):c.7175A>G (p.Glu2392Gly)
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.78T>G (p.Asn26Lys)	rs794727272
NM_004006.3(DMD):c.7909G>A (p.Val2637Ile)
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.8507G>A (p.Gly2836Asp)
NM_004006.3(DMD):c.8536G>A (p.Asp2846Asn)
NM_004006.3(DMD):c.8741A>T (p.Glu2914Val)
NM_004006.3(DMD):c.8909C>G (p.Ser2970Cys)
NM_004006.3(DMD):c.8918A>T (p.Asp2973Val)
NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile)	rs2149076096
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.91A>G (p.Lys31Glu)	rs886044521
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.9425A>T (p.Asp3142Val)
NM_004006.3(DMD):c.9472T>A (p.Tyr3158Asn)	rs2148591743
NM_004006.3(DMD):c.9491A>T (p.Glu3164Val)	rs2148591470
NM_004006.3(DMD):c.9749A>C (p.Glu3250Ala)	rs2148540881
NM_004006.3(DMD):c.9815A>G (p.Asn3272Ser)
NM_004006.3(DMD):c.9865C>T (p.Pro3289Ser)	rs2041307409

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