ClinVar Miner

List of variants in gene POMT1 reported as pathogenic for MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1

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Total variants: 8
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HGVS dbSNP
NM_001077365.2(POMT1):c.1175+1G>A rs1051679985
NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) rs119462985
NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys) rs119462984
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg) rs119462983
POMT1, ARG541TER
POMT1, GLN590HIS

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