ClinVar Miner

List of variants in gene DMD reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala) rs376720228 0.00013
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00007
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro) rs766325631 0.00003
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.3971G>A (p.Arg1324His) rs768990357 0.00002
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile) rs148643665 0.00002
NM_004006.3(DMD):c.4951G>A (p.Asp1651Asn) rs1369953471 0.00001
NM_004006.3(DMD):c.1718del (p.Ala573fs) rs1569229528
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.7172A>G (p.Lys2391Arg) rs1556930538
NM_004006.3(DMD):c.7826G>A (p.Gly2609Asp) rs1060502649

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