ClinVar Miner

List of variants reported as uncertain significance for Molybdenum cofactor deficiency, complementation group A by Invitae

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Total variants: 12
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NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys)
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) rs766904353
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu)
NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met)
NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr)
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) rs887485143
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu)
NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu)
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225

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