ClinVar Miner

List of variants reported as benign for Molybdenum cofactor deficiency, complementation group A by Illumina Clinical Services Laboratory,Illumina

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Total variants: 27
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HGVS dbSNP
NM_001358530.2(MOCS1):c.*1002C>T rs115706925
NM_001358530.2(MOCS1):c.*1113T>G rs3828937
NM_001358530.2(MOCS1):c.*1136A>C rs60326448
NM_001358530.2(MOCS1):c.*1334A>C rs3749999
NM_001358530.2(MOCS1):c.*1405G>C rs3749998
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1893G>C rs3008816
NM_001358530.2(MOCS1):c.*1928C>G rs73414848
NM_001358530.2(MOCS1):c.*378G>A rs11968529
NM_001358530.2(MOCS1):c.*451C>T rs41273136
NM_001358530.2(MOCS1):c.*578C>T rs147395035
NM_001358530.2(MOCS1):c.*734C>G rs1063171
NM_001358530.2(MOCS1):c.*824C>G rs11968491
NM_001358530.2(MOCS1):c.*987C>T rs7758412
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.124-216A>G rs3008822
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375
NM_001358530.2(MOCS1):c.583+10T>A rs34757428
NM_001358530.2(MOCS1):c.583+6C>T rs111409017
NM_001358530.2(MOCS1):c.645+9G>C rs73732319
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875

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