ClinVar Miner

List of variants reported as likely benign for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12

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Total variants: 11
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HGVS dbSNP
NM_032237.5(POMK):c.1013T>G (p.Leu338Arg) rs200555259
NM_032237.5(POMK):c.114C>T (p.Leu38=) rs182189714
NM_032237.5(POMK):c.142T>C (p.Ser48Pro) rs34466747
NM_032237.5(POMK):c.219C>G (p.Ser73=) rs188920070
NM_032237.5(POMK):c.373A>T (p.Met125Leu) rs146303063
NM_032237.5(POMK):c.564C>T (p.Ile188=) rs55724435
NM_032237.5(POMK):c.609C>T (p.Cys203=) rs567303957
NM_032237.5(POMK):c.687C>T (p.Asp229=) rs751085294
NM_032237.5(POMK):c.759C>T (p.Phe253=) rs201232766
NM_032237.5(POMK):c.882G>A (p.Gly294=) rs56282240
NM_032237.5(POMK):c.886A>G (p.Ile296Val) rs6990761

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