ClinVar Miner

List of variants reported as likely pathogenic for Becker muscular dystrophy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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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.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.4297G>C (p.Gly1433Arg) rs371601285 0.00002
NM_004006.3(DMD):c.5739+1G>T rs886043041 0.00001
NM_004006.3(DMD):c.6763-2A>G rs398124033 0.00001
GRCh37/hg19 Xp21.1(chrX:31950355-32305635)
NM_004006.3(DMD):c.10232del (p.Thr3411fs)
NM_004006.3(DMD):c.10234del (p.Thr3411_Leu3412insTer)
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.10262+1G>T rs145603325
NM_004006.3(DMD):c.10699C>T (p.Gln3567Ter) rs2036842297
NM_004006.3(DMD):c.10807G>T (p.Glu3603Ter) rs754333675
NM_004006.3(DMD):c.11046+2T>C
NM_004006.3(DMD):c.1346T>A (p.Leu449Ter)
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter) rs2149350253
NM_004006.3(DMD):c.1405G>T (p.Glu469Ter) rs774163062
NM_004006.3(DMD):c.1501G>T (p.Glu501Ter) rs2055461260
NM_004006.3(DMD):c.1704+2T>C
NM_004006.3(DMD):c.1705-2A>G rs1601809011
NM_004006.3(DMD):c.1819A>T (p.Lys607Ter) rs767698069
NM_004006.3(DMD):c.1837A>T (p.Lys613Ter) rs1302764635
NM_004006.3(DMD):c.1840A>T (p.Lys614Ter)
NM_004006.3(DMD):c.1956del (p.Asp652fs) rs886043640
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
NM_004006.3(DMD):c.2626G>T (p.Glu876Ter) rs1040401556
NM_004006.3(DMD):c.2692A>T (p.Lys898Ter)
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.2873C>A (p.Ser958Ter)
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.3059C>A (p.Ser1020Ter) rs398123919
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3160C>T (p.Gln1054Ter)
NM_004006.3(DMD):c.3163-1G>T rs2148428395
NM_004006.3(DMD):c.3184A>T (p.Lys1062Ter)
NM_004006.3(DMD):c.3276+2T>C
NM_004006.3(DMD):c.3457A>T (p.Lys1153Ter) rs2098349366
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.3824T>A (p.Leu1275Ter) rs770934386
NM_004006.3(DMD):c.3892G>T (p.Gly1298Ter) rs750349613
NM_004006.3(DMD):c.3898G>T (p.Glu1300Ter) rs2098280321
NM_004006.3(DMD):c.3928G>T (p.Glu1310Ter)
NM_004006.3(DMD):c.4342C>T (p.Gln1448Ter) rs2097990454
NM_004006.3(DMD):c.4345A>T (p.Lys1449Ter) rs2147613866
NM_004006.3(DMD):c.4454T>A (p.Leu1485Ter) rs2097986340
NM_004006.3(DMD):c.4519-5C>G rs2147560185
NM_004006.3(DMD):c.4649T>A (p.Leu1550Ter) rs2097958158
NM_004006.3(DMD):c.4656T>A (p.Tyr1552Ter) rs2097958107
NM_004006.3(DMD):c.4715T>A (p.Leu1572Ter)
NM_004006.3(DMD):c.4943T>A (p.Leu1648Ter)
NM_004006.3(DMD):c.4979G>A (p.Trp1660Ter) rs2097849830
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter) rs1603631752
NM_004006.3(DMD):c.5012T>A (p.Leu1671Ter) rs2097849676
NM_004006.3(DMD):c.5026G>T (p.Glu1676Ter) rs868267519
NM_004006.3(DMD):c.5114C>G (p.Ser1705Ter) rs2097848034
NM_004006.3(DMD):c.5251A>T (p.Lys1751Ter)
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.5383G>T (p.Glu1795Ter) rs79541196
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5548A>T (p.Lys1850Ter)
NM_004006.3(DMD):c.5584A>T (p.Lys1862Ter)
NM_004006.3(DMD):c.5586+1G>A rs1557292599
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter) rs1603631244
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.5767A>T (p.Lys1923Ter)
NM_004006.3(DMD):c.5794C>T (p.Gln1932Ter) rs2097747388
NM_004006.3(DMD):c.5860A>T (p.Lys1954Ter) rs2097746958
NM_004006.3(DMD):c.6124A>T (p.Lys2042Ter) rs1178785582
NM_004006.3(DMD):c.6175A>T (p.Lys2059Ter) rs2097447879
NM_004006.3(DMD):c.6217A>T (p.Lys2073Ter) rs773372553
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.6291-13537A>G
NM_004006.3(DMD):c.6428G>A (p.Trp2143Ter) rs2097114467
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter) rs2094828872
NM_004006.3(DMD):c.71G>A (p.Trp24Ter) rs2147755143
NM_004006.3(DMD):c.7833T>A (p.Tyr2611Ter) rs2082254429
NM_004006.3(DMD):c.8023A>T (p.Lys2675Ter) rs2080887929
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter) rs2148421809
NM_004006.3(DMD):c.832-2A>G
NM_004006.3(DMD):c.8329A>T (p.Arg2777Ter) rs2071051447
NM_004006.3(DMD):c.8483T>A (p.Leu2828Ter) rs2069915167
NM_004006.3(DMD):c.8659G>T (p.Glu2887Ter) rs2068034053
NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter) rs2065154326
NM_004006.3(DMD):c.9014T>A (p.Leu3005Ter) rs2065150560
NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter) rs72466562
NM_004006.3(DMD):c.9219T>A (p.Tyr3073Ter)
NM_004006.3(DMD):c.9284T>A (p.Leu3095Ter)
NM_004006.3(DMD):c.9311C>A (p.Ser3104Ter) rs2147071577
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.3(DMD):c.9362T>A (p.Leu3121Ter) rs2044453958
NM_004006.3(DMD):c.9534T>A (p.Cys3178Ter)
NM_004006.3(DMD):c.960+1G>A
NM_004006.3(DMD):c.9685del (p.Cys3229fs)
NM_004006.3(DMD):c.9743T>A (p.Leu3248Ter) rs2043796525
NM_004006.3(DMD):c.9856A>T (p.Arg3286Ter)
NM_004006.3(DMD):c.986C>A (p.Ser329Ter)
NM_004006.3(DMD):c.9957T>A (p.Cys3319Ter)
NM_004006.3:c.(2292+1_2293-1)_(2622+1_2623-1)del
NM_004006.3:c.7099-17240_7125del

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