ClinVar Miner

Variants in gene MOCS1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001358530.2(MOCS1):c.758-3C>T rs113678603 0.00045
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) rs146944225 0.00038
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) rs142478972 0.00027
NM_001358530.2(MOCS1):c.645+7C>T rs112994296 0.00014
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) rs201889779 0.00006
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) rs757431407 0.00002
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343

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