ClinVar Miner

List of variants in gene POMT2 reported as pathogenic for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2

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Gene type:
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Total variants: 12
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NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1123_1124dup (p.Tyr376fs) rs886042401
NM_013382.5(POMT2):c.1293dup (p.Met432fs) rs1555352706
NM_013382.5(POMT2):c.1417C>T (p.Arg473Ter) rs368817785
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.248+1G>C rs961440747
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) rs147871747
NM_013382.5(POMT2):c.673del (p.Trp225fs) rs1594796439
NM_013382.5(POMT2):c.924-2A>C rs886044256
NM_013382.5(POMT2):c.924-2A>G rs886044256
NM_013382.5(POMT2):c.958C>T (p.Gln320Ter) rs775932206
NM_013382.7(POMT2):c.791del (p.Leu264fs)

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