ClinVar Miner

List of variants studied for Duchenne muscular dystrophy by Genome-Nilou Lab

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln) rs1800280 0.95243
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_004006.3(DMD):c.1993-37T>G rs115571 0.71699
NM_004006.3(DMD):c.2645A>G (p.Asp882Gly) rs228406 0.69509
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_004006.3(DMD):c.6614+26G>T rs3761604 0.28231
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln) rs1800275 0.21153
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_004006.3(DMD):c.6290+27T>A rs3788896 0.12062
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004006.3(DMD):c.367G>A (p.Val123Ile) rs757220688 0.00002
NM_004006.3(DMD):c.4768A>G (p.Thr1590Ala) rs1419816532 0.00002
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp) rs770711808 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.10367del (p.Asn3456fs) rs1556028034
NM_004006.3(DMD):c.2335G>C (p.Asp779His) rs2148691189
NM_004006.3(DMD):c.3630del (p.Glu1211fs) rs2098315232
NM_004006.3(DMD):c.610A>G (p.Arg204Gly) rs2148751035
NM_004006.3(DMD):c.888C>A (p.Phe296Leu) rs977310228

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