ClinVar Miner

List of variants in gene POMT2 studied for Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2

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Total variants: 9
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HGVS dbSNP
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1248C>G (p.His416Gln) rs1566649375
NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) rs267606963
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_013382.5(POMT2):c.2177G>A (p.Gly726Glu) rs267606969
NM_013382.5(POMT2):c.2242T>C (p.Trp748Arg) rs267606964
NM_013382.5(POMT2):c.248+5G>C rs587777816
NM_013382.5(POMT2):c.334-3C>A rs1566658848
NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) rs267606966

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