ClinVar Miner

List of variants in gene MOCS1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
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.282G>A (p.Pro94=) rs145146059 0.00056
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.96C>T (p.Pro32=) rs746347427 0.00036
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001358530.2(MOCS1):c.357C>T (p.Ile119=) rs191519805 0.00029
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) rs144238782 0.00024
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) rs143573353 0.00016
NM_001358530.2(MOCS1):c.645+7C>T rs112994296 0.00014
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001358530.2(MOCS1):c.1023C>T (p.His341=) rs372034477 0.00008
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) rs372246702 0.00006
NM_001358530.2(MOCS1):c.418+1G>A rs141982812 0.00006
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) rs766961404 0.00003
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.1102+1G>A rs146075796
NM_001358530.2(MOCS1):c.1212G>A (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.124-74C>A
NM_001358530.2(MOCS1):c.1590A>C (p.Gly530=)
NM_001358530.2(MOCS1):c.1889G>C (p.Arg630Pro)
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) rs1768262580
NM_001358530.2(MOCS1):c.439G>A (p.Gly147Arg) rs1582817556

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