ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy-dystroglycanopathy, type C2

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Total variants: 5
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NM_013382.5(POMT2):c.1006+5G>A rs587780422
NM_013382.5(POMT2):c.1261C>T rs727502855
NM_013382.5(POMT2):c.881A>G (p.Tyr294Cys) rs587780423
NM_013382.7(POMT2):c.1726-1dup rs1229291913

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