ClinVar Miner

List of variants in gene POMT2 studied for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2

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Total variants: 12
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HGVS dbSNP
NM_013382.5(POMT2):c.1006+1G>A rs533916138
NM_013382.5(POMT2):c.1057G>A (p.Gly353Ser) rs267606970
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) rs267606965
NM_013382.5(POMT2):c.1238G>C (p.Arg413Pro) rs190285831
NM_013382.5(POMT2):c.1261del (p.Arg421fs) rs587777815
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) rs267606968
NM_013382.5(POMT2):c.1912C>T (p.Arg638Ter) rs119463989
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.334-3C>A rs1566658848
NM_013382.5(POMT2):c.593T>A (p.Ile198Asn) rs267606972
POMT2, IVS12AS, G-A, -14

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