List of variants reported as likely pathogenic for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Invitae

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Total variants: 14

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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.377G>A (p.Gly126Asp)	rs372246702	0.00006
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln)	rs104893969	0.00001
NM_001358530.2(MOCS1):c.981+1G>A	rs759311241	0.00001
NC_000006.11:g.(?_39892062)_39895188del
NC_000006.11:g.(?_39895048)_(39895317_?)dup
NM_001358530.2(MOCS1):c.1103-1G>A
NM_001358530.2(MOCS1):c.124-1G>C
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)	rs397518419
NM_001358530.2(MOCS1):c.577_583+6del
NM_001358530.2(MOCS1):c.870+1G>T
NM_001358530.2(MOCS1):c.871-1G>A
NM_001358530.2(MOCS1):c.982-1G>A
NM_001358530.2(MOCS1):c.982-763_1036del

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