ClinVar Miner

List of variants reported as likely pathogenic for Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

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Total variants: 19
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HGVS dbSNP
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NC_000001.10:g.(?_46662492_46662823del
NC_000001.11:g.(?_46188699)_(46190009_?)del
NM_017739.3(POMGNT1):c.1212-3_1212-2del rs1064797111
NM_017739.3(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.3(POMGNT1):c.1413+1G>T rs587777821
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.236-1G>T rs1057516477
NM_017739.3(POMGNT1):c.652+1G>T rs386834035
NM_017739.4(POMGNT1):c.1110+1G>A
NM_017739.4(POMGNT1):c.1153-1G>C
NM_017739.4(POMGNT1):c.120+2T>A
NM_017739.4(POMGNT1):c.121-67_265del
NM_017739.4(POMGNT1):c.1285-2A>T
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)
NM_017739.4(POMGNT1):c.1605-2A>T
NM_017739.4(POMGNT1):c.1649+1G>A
NM_017739.4(POMGNT1):c.1813C>A (p.Arg605Ser)
NM_017739.4(POMGNT1):c.235+2T>C

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