ClinVar Miner

List of variants studied for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.1183_1186del (p.Ala395fs)
NM_001358530.2(MOCS1):c.1211del (p.Pro404fs)
NM_001358530.2(MOCS1):c.200G>C (p.Arg67Pro)
NM_001358530.2(MOCS1):c.377G>T (p.Gly126Val)

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