ClinVar Miner

List of variants reported as pathogenic for Muscle eye brain disease

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Total variants: 4
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NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) rs386834015
NM_017739.3(POMGNT1):c.1539+1G>T rs138642840
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) rs1048865247

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