ClinVar Miner

List of variants in gene POMT2 reported as benign 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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Total variants: 14
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HGVS dbSNP
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.1383A>G (p.Arg461=) rs2270419
NM_013382.5(POMT2):c.1537A>G (p.Asn513Asp) rs117173425
NM_013382.5(POMT2):c.1593G>A (p.Leu531=) rs147934334
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.1911G>T (p.Leu637=) rs3209079
NM_013382.5(POMT2):c.1935C>T (p.Leu645=) rs141193672
NM_013382.5(POMT2):c.2057G>A (p.Arg686Gln) rs200163818
NM_013382.5(POMT2):c.2175C>T (p.Tyr725=) rs116434191
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013382.5(POMT2):c.66C>T (p.Gly22=) rs200670377
NM_013382.5(POMT2):c.924-10C>T rs142122657

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