ClinVar Miner

List of variants reported as uncertain significance for Duchenne muscular dystrophy by Mendelics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe) rs794727380 0.00002
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del) rs1060502613
NM_004006.3(DMD):c.1422G>T (p.Met474Ile) rs1602169021
NM_004006.3(DMD):c.332T>A (p.Ile111Asn) rs1603441549
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg) rs1603632892
NM_004006.3(DMD):c.474C>A (p.Asn158Lys) rs1324314201
NM_004006.3(DMD):c.8668+138G>A rs1603225135
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe) rs1040153805
NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys) rs1602668870

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