ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 46
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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.1102+2T>C rs1345407391 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
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.(?_39881498)_(39883996_?)dup
NC_000006.11:g.(?_39892062)_39895188del
NC_000006.11:g.(?_39893402)_(39895317_?)dup
NC_000006.11:g.(?_39895048)_(39895317_?)dup
NM_001358530.2(MOCS1):c.1004dup (p.Val336fs)
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)
NM_001358530.2(MOCS1):c.1102+1G>A rs146075796
NM_001358530.2(MOCS1):c.1103-1G>A
NM_001358530.2(MOCS1):c.1103-1G>C
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) rs1562085332
NM_001358530.2(MOCS1):c.1150+1G>T rs2149398895
NM_001358530.2(MOCS1):c.1150+21T>C
NM_001358530.2(MOCS1):c.1150+3dup rs2149398883
NM_001358530.2(MOCS1):c.124-122_124-121insA
NM_001358530.2(MOCS1):c.124-123_124-122del
NM_001358530.2(MOCS1):c.124-1G>A
NM_001358530.2(MOCS1):c.124-1G>C
NM_001358530.2(MOCS1):c.124-26_124-25delinsA
NM_001358530.2(MOCS1):c.124-32del
NM_001358530.2(MOCS1):c.124-43del
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.252_256delinsG (p.Cys84fs)
NM_001358530.2(MOCS1):c.255_264delinsTCCTT (p.Gln85fs)
NM_001358530.2(MOCS1):c.278dup (p.Leu95fs)
NM_001358530.2(MOCS1):c.291del (p.Ala99fs) rs755808099
NM_001358530.2(MOCS1):c.301del (p.Leu101fs)
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.427C>T (p.Gln143Ter)
NM_001358530.2(MOCS1):c.577_583+6del
NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter)
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
NM_001358530.2(MOCS1):c.721del (p.Leu241fs) rs1767453857
NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter)
NM_001358530.2(MOCS1):c.870+1G>T
NM_001358530.2(MOCS1):c.871-1G>A
NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys)
NM_001358530.2(MOCS1):c.982-1G>A
NM_001358530.2(MOCS1):c.982-763_1036del
NM_001358530.2(MOCS1):c.994G>T (p.Gly332Ter)

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