ClinVar Miner

List of variants in gene DMD reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.1761A>G (p.Thr587=) rs370103963 0.00016
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu) rs181517869 0.00007
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile) rs762475657 0.00003
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala) rs772229363 0.00003
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met) rs751810893 0.00003
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro) rs776275581 0.00002
NM_004006.3(DMD):c.4497G>A (p.Gln1499=) rs1417062461 0.00002
NM_004006.3(DMD):c.728T>C (p.Val243Ala) rs753509616 0.00002
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn) rs771081514 0.00002
NM_004006.3(DMD):c.-192C>T rs2051914908 0.00001
NM_004006.3(DMD):c.1047A>T (p.Glu349Asp) rs1044325754 0.00001
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly) rs770239678 0.00001
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly) rs886043493 0.00001
NM_004006.3(DMD):c.5518G>C (p.Asp1840His) rs905571950 0.00001
NM_004006.3(DMD):c.711A>C (p.Gln237His) rs778632674 0.00001
NM_004006.2(DMD):c.-240G>T
NM_004006.3(DMD):c.-123T>C rs760595740
NM_004006.3(DMD):c.10432A>G (p.Ser3478Gly)
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr) rs748964279
NM_004006.3(DMD):c.1310C>G (p.Ala437Gly) rs1556875180
NM_004006.3(DMD):c.1331+2dup rs1556875106
NM_004006.3(DMD):c.1360A>C (p.Asn454His)
NM_004006.3(DMD):c.139G>T (p.Gly47Trp) rs1557084183
NM_004006.3(DMD):c.2176G>T (p.Val726Phe) rs886044365
NM_004006.3(DMD):c.3603+2_3603+3insTA rs1603633860
NM_004006.3(DMD):c.419T>G (p.Leu140Arg) rs1557052675
NM_004006.3(DMD):c.4409G>A (p.Arg1470His) rs752129019
NM_004006.3(DMD):c.493G>T (p.Asp165Tyr) rs1569528100
NM_004006.3(DMD):c.5679G>A (p.Leu1893=)
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser) rs951731570
NM_004006.3(DMD):c.5995A>G (p.Thr1999Ala)
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser) rs1468473458
NM_004006.3(DMD):c.6290+5G>A rs886043467
NM_004006.3(DMD):c.6762G>C (p.Lys2254Asn) rs1569516110
NM_004006.3(DMD):c.7201-4A>G rs1556917126
NM_004006.3(DMD):c.8279A>G (p.Gln2760Arg)
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.941G>T (p.Arg314Leu) rs751164104
NM_004006.3(DMD):c.9477C>A (p.Asp3159Glu)
NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr) rs398124109
Single allele

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