ClinVar Miner

List of variants in gene DMD reported as uncertain significance by Genome-Nilou Lab

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.367G>A (p.Val123Ile) rs757220688 0.00002
NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala) rs1419816532 0.00002
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp) rs770711808 0.00002
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.2335G>C (p.Asp779His) rs2148691189
NM_004006.3(DMD):c.610A>G (p.Arg204Gly) rs2148751035
NM_004006.3(DMD):c.888C>A (p.Phe296Leu) rs977310228

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