ClinVar Miner

List of variants in gene MOCS1 reported as likely pathogenic for Molybdenum cofactor deficiency, complementation group A

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Total variants: 4
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HGVS dbSNP
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702

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