ClinVar Miner

List of variants in gene POMK reported as uncertain significance 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: 21
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NM_032237.5(POMK):c.1024A>G (p.Met342Val) rs762404960
NM_032237.5(POMK):c.20A>G (p.Asn7Ser) rs143957574
NM_032237.5(POMK):c.254A>G (p.Lys85Arg) rs752925552
NM_032237.5(POMK):c.271G>A (p.Ala91Thr)
NM_032237.5(POMK):c.407C>T (p.Thr136Met) rs138216719
NM_032237.5(POMK):c.456C>A (p.His152Gln) rs1363145685
NM_032237.5(POMK):c.502A>C (p.Lys168Gln) rs756014333
NM_032237.5(POMK):c.565A>G (p.Ile189Val) rs149297443
NM_032237.5(POMK):c.589G>T (p.Val197Leu) rs374943200
NM_032237.5(POMK):c.599G>A (p.Arg200Gln)
NM_032237.5(POMK):c.626C>T (p.Pro209Leu) rs369093146
NM_032237.5(POMK):c.68T>C (p.Leu23Pro) rs200277006
NM_032237.5(POMK):c.704A>G (p.Asn235Ser) rs200742772
NM_032237.5(POMK):c.715G>A (p.Gly239Arg)
NM_032237.5(POMK):c.760G>A (p.Val254Met) rs34715198
NM_032237.5(POMK):c.76A>C (p.Ile26Leu)
NM_032237.5(POMK):c.883C>T (p.His295Tyr) rs1554524387
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983
NM_032237.5(POMK):c.910T>C (p.Phe304Leu) rs757744253

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