ClinVar Miner

List of variants in gene MOCS1 reported as pathogenic for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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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.1102+2T>C rs1345407391 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1222C>T (p.Gln408Ter) rs775830396 0.00001
NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp) rs779592342 0.00001
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969 0.00001
NC_000006.11:g.(?_39874133)_(39902156_?)del
NC_000006.11:g.(?_39893548)_(39895439_?)del
NC_000006.11:g.(?_39902014)_(39902156_?)del
NC_000006.12:g.39907116CT[1]
NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) rs1767224356
NM_001358530.2(MOCS1):c.1001_1002del (p.Asn333_Ser334insTer) rs1562086521
NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter)
NM_001358530.2(MOCS1):c.106del (p.Ala36fs)
NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter)
NM_001358530.2(MOCS1):c.1102+1G>A rs146075796
NM_001358530.2(MOCS1):c.1150+1G>T rs2149398895
NM_001358530.2(MOCS1):c.1150G>T (p.Glu384Ter)
NM_001358530.2(MOCS1):c.1160dup (p.Leu387fs)
NM_001358530.2(MOCS1):c.1170del (p.Asn391fs)
NM_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter)
NM_001358530.2(MOCS1):c.1275del (p.Gly426fs)
NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter)
NM_001358530.2(MOCS1):c.1332del (p.Gln446fs)
NM_001358530.2(MOCS1):c.1338_1341dup (p.His448fs)
NM_001358530.2(MOCS1):c.1338del (p.Arg447fs)
NM_001358530.2(MOCS1):c.1340_1341del (p.Arg447fs)
NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter)
NM_001358530.2(MOCS1):c.1446_1449dup (p.His484fs)
NM_001358530.2(MOCS1):c.1451_1452del (p.His484fs)
NM_001358530.2(MOCS1):c.1501_1504del (p.Asp501fs)
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.251-2A>G
NM_001358530.2(MOCS1):c.268G>T (p.Glu90Ter) rs147580725
NM_001358530.2(MOCS1):c.271del (p.Glu91fs) rs2149419593
NM_001358530.2(MOCS1):c.277del (p.Val93fs)
NM_001358530.2(MOCS1):c.291del (p.Ala99fs) rs755808099
NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)
NM_001358530.2(MOCS1):c.343del (p.Phe114_Val115insTer) rs2149419438
NM_001358530.2(MOCS1):c.367del (p.Arg123fs)
NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter)
NM_001358530.2(MOCS1):c.455del (p.Gly152fs)
NM_001358530.2(MOCS1):c.484del (p.Arg162fs)
NM_001358530.2(MOCS1):c.486del (p.Leu163fs)
NM_001358530.2(MOCS1):c.48del (p.Ser17fs) rs2149429492
NM_001358530.2(MOCS1):c.519del (p.Ser173fs)
NM_001358530.2(MOCS1):c.544del (p.Leu182fs)
NM_001358530.2(MOCS1):c.631dup (p.Tyr211fs)
NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter)
NM_001358530.2(MOCS1):c.721del (p.Leu241fs) rs1767453857
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) rs397518418
NM_001358530.2(MOCS1):c.750del (p.Phe251fs)
NM_001358530.2(MOCS1):c.776del (p.Lys259fs)
NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter)
NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter) rs774902198
NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu)
NM_001358530.2(MOCS1):c.993del (p.Phe331fs)

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