ClinVar Miner

List of variants in gene DMD reported as uncertain significance by Mendelics

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Gene type:
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Total variants: 24
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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.3101C>T (p.Ser1034Phe) rs794727380 0.00002
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr) rs1475038240 0.00001
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del) rs1060502613
NM_004006.3(DMD):c.10262+1G>T rs145603325
NM_004006.3(DMD):c.1331+3_1331+6del rs2146818031
NM_004006.3(DMD):c.1422G>T (p.Met474Ile) rs1602169021
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser) rs2148584563
NM_004006.3(DMD):c.266T>C (p.Val89Ala) rs1557058441
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg) rs2040732218
NM_004006.3(DMD):c.31+7A>G rs2148863971
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.464A>G (p.Asn155Ser) rs2148806581
NM_004006.3(DMD):c.474C>A (p.Asn158Lys) rs1324314201
NM_004006.3(DMD):c.531-10T>A rs747522183
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg) rs794727662
NM_004006.3(DMD):c.7661-6T>G rs2148734428
NM_004006.3(DMD):c.8668+138G>A rs1603225135
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe) rs1040153805
NM_004006.3(DMD):c.875C>G (p.Pro292Arg) rs915965687
NM_004006.3(DMD):c.9433A>G (p.Met3145Val) rs775080631
NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys) rs1602668870

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