ClinVar Miner

List of variants in gene DMD reported as likely pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.177del (p.Gln60fs) rs1057518834
NM_004006.2(DMD):c.357+1G>A rs1557058294
NM_004006.2(DMD):c.7319dup (p.Thr2441fs) rs1556880327

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