ClinVar Miner

List of variants reported as uncertain significance for sulfite oxidase deficiency due to molybdenum cofactor deficiency type A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225 0.00038
NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) rs186335243 0.00036
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972 0.00027
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001358530.2(MOCS1):c.419C>T (p.Ala140Val) rs548898048 0.00016
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.61T>C (p.Cys21Arg) rs571518668 0.00016
NM_001358530.2(MOCS1):c.646G>A (p.Val216Met) rs201334190 0.00011
NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr) rs537163552 0.00008
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) rs200072824 0.00006
NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp) rs746138504 0.00006
NM_001358530.2(MOCS1):c.610C>T (p.His204Tyr) rs373030876 0.00005
NM_001358530.2(MOCS1):c.176C>T (p.Ala59Val) rs542659659 0.00004
NM_001358530.2(MOCS1):c.575G>A (p.Arg192His) rs564888351 0.00004
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) rs766961404 0.00003
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) rs201036100 0.00003
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) rs781187745 0.00002
NM_001358530.2(MOCS1):c.1133G>A (p.Arg378Gln) rs200653737 0.00002
NM_001358530.2(MOCS1):c.268G>A (p.Glu90Lys) rs147580725 0.00002
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) rs757431407 0.00002
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) rs767641674 0.00002
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) rs374575232 0.00002
NM_001358530.2(MOCS1):c.639T>G (p.Pro213=) rs1260936028 0.00002
NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=) rs766980859 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001358530.2(MOCS1):c.164C>T (p.Ala55Val) rs1045854458 0.00001
NM_001358530.2(MOCS1):c.344T>C (p.Val115Ala) rs372613479 0.00001
NM_001358530.2(MOCS1):c.368G>A (p.Arg123Gln) rs567945725 0.00001
NM_001358530.2(MOCS1):c.713G>T (p.Gly238Val) rs778501170 0.00001
NM_001358530.2(MOCS1):c.730C>T (p.Arg244Cys) rs951951184 0.00001
NM_001358530.2(MOCS1):c.863C>T (p.Thr288Ile) rs769378717 0.00001
NM_001358530.2(MOCS1):c.1036G>A (p.Ala346Thr)
NM_001358530.2(MOCS1):c.1112G>T (p.Ser371Ile)
NM_001358530.2(MOCS1):c.1122G>C (p.Gln374His)
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) rs149586823
NM_001358530.2(MOCS1):c.124-101G>A
NM_001358530.2(MOCS1):c.124-118G>T
NM_001358530.2(MOCS1):c.124-124_124-123del
NM_001358530.2(MOCS1):c.124-39A>G
NM_001358530.2(MOCS1):c.124-42G>T
NM_001358530.2(MOCS1):c.124-47A>G
NM_001358530.2(MOCS1):c.124-63C>A
NM_001358530.2(MOCS1):c.124-71G>T
NM_001358530.2(MOCS1):c.124-84A>G
NM_001358530.2(MOCS1):c.124-96G>T
NM_001358530.2(MOCS1):c.124-99A>T
NM_001358530.2(MOCS1):c.152G>A (p.Arg51Gln)
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) rs770756364
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) rs567333444
NM_001358530.2(MOCS1):c.251-11C>A rs377424990
NM_001358530.2(MOCS1):c.263T>A (p.Met88Lys)
NM_001358530.2(MOCS1):c.265C>G (p.Pro89Ala)
NM_001358530.2(MOCS1):c.347A>G (p.Lys116Arg)
NM_001358530.2(MOCS1):c.376G>A (p.Gly126Ser)
NM_001358530.2(MOCS1):c.397C>T (p.Pro133Ser)
NM_001358530.2(MOCS1):c.455G>T (p.Gly152Val) rs116035280
NM_001358530.2(MOCS1):c.595G>A (p.Val199Ile)
NM_001358530.2(MOCS1):c.605_606delinsCT (p.Gly202Ala)
NM_001358530.2(MOCS1):c.622G>A (p.Glu208Lys)
NM_001358530.2(MOCS1):c.635A>G (p.Asn212Ser)
NM_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr) rs1157838581
NM_001358530.2(MOCS1):c.652T>C (p.Cys218Arg)
NM_001358530.2(MOCS1):c.676G>A (p.Glu226Lys)
NM_001358530.2(MOCS1):c.711G>C (p.Glu237Asp)
NM_001358530.2(MOCS1):c.809C>T (p.Thr270Ile)
NM_001358530.2(MOCS1):c.902T>A (p.Ile301Asn)
NM_001358530.2(MOCS1):c.950G>A (p.Arg317His)

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