ClinVar Miner

List of variants in gene DMD reported as likely pathogenic by Baylor Genetics

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Gene type:
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Total variants: 21
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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.5739+1G>T rs886043041 0.00001
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter) rs376745644
NM_004006.3(DMD):c.10395-1G>A rs1602338283
NM_004006.3(DMD):c.11046+2T>C
NM_004006.3(DMD):c.2366_2373del (p.Glu789fs)
NM_004006.3(DMD):c.2381-2A>C rs1603634749
NM_004006.3(DMD):c.2949+2T>C rs2040709857
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.5448+1G>A rs1064796764
NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs) rs1569558953
NM_004006.3(DMD):c.5922+1G>T rs1603631219
NM_004006.3(DMD):c.6290G>T (p.Gly2097Val)
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.832-2A>G
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.3(DMD):c.960+1G>A
NM_004006.3(DMD):c.9685del (p.Cys3229fs)
NM_004006.3:c.7099-17240_7125del
NM_004020.4(DMD):c.2843+6256_2843+6260dup rs1602360475

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