ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) rs368970223 0.00004
NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) rs1324430830 0.00001
NM_004006.3(DMD):c.1812+601A>G rs1603636710
NM_004006.3(DMD):c.357+1G>A rs1557058294
NM_004006.3(DMD):c.5048del (p.Thr1683fs)
NM_004006.3(DMD):c.9225-1G>C
NM_005198.5(CHKB):c.419del (p.Pro140fs) rs2146656742
NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) rs267607644
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) rs1553264624
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369

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