ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 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: 5
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HGVS dbSNP
NC_000001.10:g.(?_46654371)_(46655681_?)del
NC_000001.10:g.(?_46656135)_(46656466_?)dup
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.652+1G>T

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