ClinVar Miner

Variants in gene DMD with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 36
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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.1812+1G>A rs373286166 0.00003
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter) rs895755247
NM_004006.3(DMD):c.10504del (p.Glu3502fs) rs1556024147
NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs) rs878854366
NM_004006.3(DMD):c.10588C>T (p.Gln3530Ter) rs2147935982
NM_004006.3(DMD):c.1128dup (p.Asp377fs) rs886044624
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1270del (p.Gln423_Met424insTer) rs1602459861
NM_004006.3(DMD):c.1283del (p.Asn428fs) rs2059643357
NM_004006.3(DMD):c.1602+1G>T rs1057517960
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter) rs1060502629
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.2485C>T (p.Gln829Ter) rs753662330
NM_004006.3(DMD):c.2603del (p.Ser868fs) rs886042348
NM_004006.3(DMD):c.2623-1G>T rs794729005
NM_004006.3(DMD):c.2804-1G>T rs398123909
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004006.3(DMD):c.3276+1G>C rs398123934
NM_004006.3(DMD):c.3276+2del rs1557369964
NM_004006.3(DMD):c.3432+2036A>G rs182575709
NM_004006.3(DMD):c.3432+3A>G rs398123938
NM_004006.3(DMD):c.354G>A (p.Trp118Ter) rs2148849959
NM_004006.3(DMD):c.3639dup (p.Val1214fs) rs398123943
NM_004006.3(DMD):c.3747del (p.Trp1249fs) rs398123945
NM_004006.3(DMD):c.4000G>T (p.Gly1334Ter) rs146880270
NM_004006.3(DMD):c.5026-2A>G rs1569559849
NM_004006.3(DMD):c.5089C>T (p.Gln1697Ter) rs886042347
NM_004006.3(DMD):c.5941dup (p.Thr1981fs)
NM_004006.3(DMD):c.6613_6614del (p.Arg2205fs)
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004006.3(DMD):c.9225-647A>G rs398124091
Single allele

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