ClinVar Miner

List of variants in gene DMD reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
GRCh37/hg19 Xp21.1(chrX:31815807-31875058)x0
GRCh37/hg19 Xp21.1(chrX:31855685-32248817)x3
GRCh37/hg19 Xp21.1(chrX:32429869-32536248)x3
GRCh37/hg19 Xp21.1(chrX:32662249-32663269)x3
GRCh37/hg19 Xp21.1(chrX:32769117-32806554)x0
GRCh37/hg19 Xp21.2(chrX:31187560-31187718)x0
NM_004006.2(DMD):c.1152del
NM_004006.2:c.7098+17031_7201-8188del
NM_004006.2:c.7661_8937dup
NM_004006.3(DMD):c.10087-1G>T
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del) rs1060502613
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10133del (p.Asn3378fs) rs863224975
NM_004006.3(DMD):c.10263-1_10263dup
NM_004006.3(DMD):c.10366_10367del (p.Leu3455_Asn3456insTer)
NM_004006.3(DMD):c.10504del (p.Glu3502fs) rs1556024147
NM_004006.3(DMD):c.10563del (p.Ala3522fs) rs2147936347
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter) rs2147935982
NM_004006.3(DMD):c.1075G>T (p.Glu359Ter) rs1556876346
NM_004006.3(DMD):c.1128dup (p.Asp377fs) rs886044624
NM_004006.3(DMD):c.1236dup (p.Ser413fs)
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer) rs1602459861
NM_004006.3(DMD):c.1304_1331+10del rs1556875089
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly) rs1556875180
NM_004006.3(DMD):c.1602+1G>T rs1057517960
NM_004006.3(DMD):c.1602G>A (p.Lys534=) rs1556834513
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1705-1G>T rs878854619
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.1774_1804del (p.Asp592fs) rs1601808175
NM_004006.3(DMD):c.1992+1G>A
NM_004006.3(DMD):c.2243_2244insCC (p.Ile749fs)
NM_004006.3(DMD):c.2292+1024G>T
NM_004006.3(DMD):c.2292+1G>A
NM_004006.3(DMD):c.2439del (p.Ile813fs) rs2042990064
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2603_2613del (p.Ser868fs)
NM_004006.3(DMD):c.2603del (p.Ser868fs) rs886042348
NM_004006.3(DMD):c.2623-1G>T rs794729005
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3108_3109del (p.Leu1036_Val1037insTer)
NM_004006.3(DMD):c.313A>T (p.Lys105Ter) rs2148850223
NM_004006.3(DMD):c.3163-1G>T rs2148428395
NM_004006.3(DMD):c.32-2A>C
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3276+2del rs1557369964
NM_004006.3(DMD):c.3432+3A>G rs398123938
NM_004006.3(DMD):c.3603+2del
NM_004006.3(DMD):c.3639dup (p.Val1214fs) rs398123943
NM_004006.3(DMD):c.3747del (p.Trp1249fs) rs398123945
NM_004006.3(DMD):c.388G>T (p.Gly130Ter) rs2148807631
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004006.3(DMD):c.4003G>C (p.Val1335Leu) rs2098269145
NM_004006.3(DMD):c.4222C>T (p.Gln1408Ter) rs1057524291
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter) rs1603632311
NM_004006.3(DMD):c.44del (p.Asp15fs) rs2093886453
NM_004006.3(DMD):c.4601del (p.Gln1534fs)
NM_004006.3(DMD):c.4855A>T (p.Lys1619Ter)
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter) rs886042347
NM_004006.3(DMD):c.511G>C (p.Ala171Pro) rs755452188
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5448+67A>G
NM_004006.3(DMD):c.5527_5528del (p.Lys1843fs)
NM_004006.3(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.6118-1G>C rs1060502656
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004006.3(DMD):c.6614+3310G>T rs797045526
NM_004006.3(DMD):c.6762+3A>T rs1085307811
NM_004006.3(DMD):c.6906_6907delinsC (p.Trp2302fs)
NM_004006.3(DMD):c.6912+1G>A rs746082869
NM_004006.3(DMD):c.7070del (p.Pro2357fs)
NM_004006.3(DMD):c.7660+1G>C rs1556852444
NM_004006.3(DMD):c.7661-1G>T
NM_004006.3(DMD):c.7873C>T (p.Gln2625Ter) rs2148616294
NM_004006.3(DMD):c.79dup (p.Ala27fs) rs1057519180
NM_004006.3(DMD):c.8087del (p.Leu2696fs)
NM_004006.3(DMD):c.8217+18052A>G rs886042109
NM_004006.3(DMD):c.8217+32103G>T rs2148165214
NM_004006.3(DMD):c.8218-1G>C
NM_004006.3(DMD):c.832-2A>C rs2063781031
NM_004006.3(DMD):c.8371A>T (p.Lys2791Ter) rs2147175318
NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys) rs1603280511
NM_004006.3(DMD):c.8548-2_8549dup rs1556656895
NM_004006.3(DMD):c.907C>T (p.Gln303Ter) rs769389263
NM_004006.3(DMD):c.907del (p.Gln303fs)
NM_004006.3(DMD):c.9224+5G>A rs1556503812
NM_004006.3(DMD):c.9225-2A>T rs2147649643
NM_004006.3(DMD):c.9290dup (p.Asp3097fs) rs2147071888
NM_004006.3(DMD):c.93+2T>A rs1602765856
NM_004006.3(DMD):c.9362-1215A>G rs2148603634
NM_004006.3(DMD):c.94-38_94del
NM_004006.3(DMD):c.960+1G>T rs199783662
NM_004006.3(DMD):c.961-2A>C
NM_004006.3(DMD):c.9650-4_9655del rs1060502653
NM_004006.3(DMD):c.9884dup (p.Pro3296fs)
NM_004006.3(DMD):c.9896A>G (p.His3299Arg) rs398124107
NM_004006.3(DMD):c.9958C>A (p.Pro3320Thr) rs1131691677
Single allele

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