ClinVar Miner

List of variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) rs104893970 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)
NM_001358530.2(MOCS1):c.1338del (p.Arg447fs)
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.251-2A>G
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418

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