ClinVar Miner

List of variants in gene DMD reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3432+2036A>C rs182575709 0.00580
NM_004006.3(DMD):c.*489C>T rs45549534 0.00133
NM_004006.3(DMD):c.5265C>T (p.Pro1755=) rs145515413 0.00124
NM_004006.3(DMD):c.*2268C>T rs746158689 0.00075
NM_004006.3(DMD):c.5476G>C (p.Glu1826Gln) rs140913030 0.00071
NM_004006.3(DMD):c.4125T>C (p.Thr1375=) rs144329742 0.00069
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004006.3(DMD):c.3326A>T (p.Asn1109Ile) rs200596739 0.00064
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys) rs147904018 0.00054
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004006.3(DMD):c.1252A>T (p.Thr418Ser) rs201341211 0.00026
NM_004006.3(DMD):c.9225-5795G>A rs138287985 0.00025
NM_004006.3(DMD):c.2884C>G (p.Leu962Val) rs150959827 0.00024
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) rs145266970 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln) rs141151675 0.00013
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004006.3(DMD):c.530+7A>T rs72470523 0.00009
NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile) rs369055628 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.8829G>A (p.Thr2943=) rs150766816 0.00008
NM_004006.3(DMD):c.4677A>T (p.Val1559=) rs779181100 0.00007
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser) rs201718067 0.00007
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106 0.00006
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.2607G>C (p.Gln869His) rs398123898 0.00005
NM_004006.3(DMD):c.3046C>T (p.Arg1016Trp) rs199808421 0.00005
NM_004006.3(DMD):c.5288G>T (p.Arg1763Leu) rs398123982 0.00005
NM_004006.3(DMD):c.6132T>C (p.Ser2044=) rs761338933 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg) rs777178221 0.00005
NM_004006.3(DMD):c.1083A>G (p.Thr361=) rs767325921 0.00004
NM_004006.3(DMD):c.2623-9A>G rs200997841 0.00004
NM_004006.3(DMD):c.2630T>G (p.Val877Gly) rs769516870 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.2424G>C (p.Leu808=) rs748257989 0.00003
NM_004006.3(DMD):c.3114G>A (p.Glu1038=) rs143810752 0.00003
NM_004006.3(DMD):c.3132G>A (p.Glu1044=) rs758283681 0.00003
NM_004006.3(DMD):c.9108G>A (p.Arg3036=) rs1276369095 0.00003
NM_004006.3(DMD):c.104A>C (p.Gln35Pro) rs1477107648 0.00002
NM_004006.3(DMD):c.10975G>A (p.Val3659Met) rs768532317 0.00002
NM_004006.3(DMD):c.159C>A (p.Leu53=) rs762245872 0.00002
NM_004006.3(DMD):c.2210G>A (p.Arg737His) rs773358704 0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His) rs768990357 0.00002
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met) rs1431604157 0.00002
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser) rs1800271 0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) rs377039314 0.00002
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln) rs201818335 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.10160C>T (p.Ala3387Val) rs202219782 0.00001
NM_004006.3(DMD):c.10712G>A (p.Arg3571His) rs935091512 0.00001
NM_004006.3(DMD):c.10734C>A (p.Ile3578=) rs762374364 0.00001
NM_004006.3(DMD):c.1209A>T (p.Gly403=) rs755647122 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.284G>T (p.Gly95Val) rs1381812538 0.00001
NM_004006.3(DMD):c.2991C>T (p.Tyr997=) rs863224992 0.00001
NM_004006.3(DMD):c.3789A>G (p.Glu1263=) rs1384918904 0.00001
NM_004006.3(DMD):c.3986C>T (p.Thr1329Ile) rs770827878 0.00001
NM_004006.3(DMD):c.3999C>T (p.Gly1333=) rs140759792 0.00001
NM_004006.3(DMD):c.4383C>T (p.Phe1461=) rs752977828 0.00001
NM_004006.3(DMD):c.4505T>G (p.Leu1502Arg) rs745462674 0.00001
NM_004006.3(DMD):c.5601A>C (p.Gln1867His) rs1057519179 0.00001
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter) rs398124008 0.00001
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly) rs139937177 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn) rs965718917 0.00001
NM_004006.3(DMD):c.930T>C (p.Ser310=) rs779577176 0.00001
GRCh37/hg19 Xp21.1(chrX:31645790-31697703)x1
GRCh37/hg19 Xp21.1(chrX:31791729-31986631)x1
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp21.1(chrX:31838092-31893490)x0
GRCh37/hg19 Xp21.1(chrX:31854835-31893490)x0
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x2
GRCh37/hg19 Xp21.1(chrX:32235033-32235180)x4
GRCh37/hg19 Xp21.1(chrX:32429869-32536248)x3
GRCh37/hg19 Xp21.1(chrX:32456356-32490428)x0
GRCh37/hg19 Xp21.1(chrX:32563274-32717411)x2
GRCh37/hg19 Xp21.1(chrX:32662249-32663269)x3
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
NM_004006.3(DMD):c.*479CA[6] rs763028610
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.10034G>C (p.Arg3345Pro) rs2041036250
NM_004006.3(DMD):c.10085C>G (p.Pro3362Arg) rs1569423459
NM_004006.3(DMD):c.10279C>T (p.Gln3427Ter) rs886042691
NM_004006.3(DMD):c.10373G>A (p.Ser3458Asn)
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.10604G>T (p.Gly3535Val) rs1555998259
NM_004006.3(DMD):c.10668T>A (p.Ala3556=)
NM_004006.3(DMD):c.1102A>G (p.Ile368Val)
NM_004006.3(DMD):c.1104T>A (p.Ile368=) rs2059694784
NM_004006.3(DMD):c.116dup (p.Asn39fs)
NM_004006.3(DMD):c.1195A>G (p.Ile399Val) rs2146821417
NM_004006.3(DMD):c.1211G>C (p.Ser404Thr)
NM_004006.3(DMD):c.1223G>T (p.Gly408Val)
NM_004006.3(DMD):c.1329C>T (p.Ser443=) rs1060502631
NM_004006.3(DMD):c.1462C>A (p.Arg488Ser) rs758932385
NM_004006.3(DMD):c.1548A>T (p.Val516=) rs779579215
NM_004006.3(DMD):c.1583C>T (p.Ala528Val) rs753624531
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.1704+4T>C
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs) rs1601808175
NM_004006.3(DMD):c.2648T>G (p.Leu883Arg)
NM_004006.3(DMD):c.266T>C (p.Val89Ala) rs1557058441
NM_004006.3(DMD):c.2981_2982delinsTA (p.Ser994Ile)
NM_004006.3(DMD):c.31+134AT[6] rs764891575
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3229G>T (p.Ala1077Ser)
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3375G>C (p.Ser1125=) rs191164314
NM_004006.3(DMD):c.3479dup (p.Ser1161fs)
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.3611A>T (p.Lys1204Ile) rs1603633687
NM_004006.3(DMD):c.3850G>A (p.Glu1284Lys) rs1557359192
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu) rs2098269145
NM_004006.3(DMD):c.4292A>G (p.Asn1431Ser)
NM_004006.3(DMD):c.433C>T (p.Arg145Ter) rs128626235
NM_004006.3(DMD):c.4675-1G>T rs2097921115
NM_004006.3(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.3(DMD):c.4986T>C (p.Ala1662=) rs2147259262
NM_004006.3(DMD):c.5128C>A (p.Pro1710Thr)
NM_004006.3(DMD):c.5140G>T (p.Glu1714Ter) rs886042747
NM_004006.3(DMD):c.5274A>C (p.Ser1758=)
NM_004006.3(DMD):c.5278C>T (p.Leu1760Phe)
NM_004006.3(DMD):c.5684A>G (p.Asp1895Gly) rs376202643
NM_004006.3(DMD):c.5713G>C (p.Glu1905Gln)
NM_004006.3(DMD):c.5923-12T>G rs2148596650
NM_004006.3(DMD):c.6118-75AT[9]
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004006.3(DMD):c.6889C>T (p.Gln2297Ter) rs2094827553
NM_004006.3(DMD):c.7009T>G (p.Leu2337Val) rs1603513931
NM_004006.3(DMD):c.7169A>G (p.Tyr2390Cys)
NM_004006.3(DMD):c.7575C>G (p.Pro2525=) rs1569308187
NM_004006.3(DMD):c.7653G>A (p.Thr2551=) rs368803197
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.3(DMD):c.7877T>C (p.Leu2626Ser)
NM_004006.3(DMD):c.7967C>A (p.Thr2656Asn) rs1569186515
NM_004006.3(DMD):c.79dup (p.Ala27fs) rs1057519180
NM_004006.3(DMD):c.8169G>C (p.Arg2723Ser) rs1569139778
NM_004006.3(DMD):c.8217+32103G>T rs2148165214
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
NM_004006.3(DMD):c.8830G>A (p.Asp2944Asn)
NM_004006.3(DMD):c.902A>G (p.Tyr301Cys) rs769658853
NM_004006.3(DMD):c.9030A>G (p.Ser3010=)
NM_004006.3(DMD):c.9176G>C (p.Gly3059Ala) rs2056577235
NM_004006.3(DMD):c.960+1G>T rs199783662
NM_004006.3(DMD):c.9602C>T (p.Thr3201Ile)
NM_004006.3(DMD):c.9896A>G (p.His3299Arg) rs398124107
NM_004006.3(DMD):c.9900_9901dup (p.Val3301fs)
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853

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