ClinVar Miner

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

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Total variants: 6
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NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs)
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970
NM_001358530.2(MOCS1):c.418+1G>A rs141982812
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969

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