List of variants reported as uncertain significance for Combined molybdoflavoprotein enzyme deficiency by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004531.5(MOCS2):c.*321A>G	rs73756618	0.00849
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu)	rs777476892	0.00004
NM_001358530.2(MOCS1):c.*423C>A	rs886061387	0.00003
NM_004531.5(MOCS2):c.*171G>C	rs191465075	0.00003
NM_001201427.2(DAAM2):c.2451_2455dup	rs370863199
NM_001201427.2(DAAM2):c.*2609C>T	rs886061379
NM_001201427.2(DAAM2):c.*2655ATCT[3]	rs112059918
NM_001358530.2(MOCS1):c.1062_1063dup	rs886061382
NM_001358530.2(MOCS1):c.*1433T>A	rs745650301
NM_001358530.2(MOCS1):c.759_761dup	rs543804008
NM_001358530.2(MOCS1):c.771_772dup	rs886061384
NM_001358530.2(MOCS1):c.*908AATC[5]	rs3839624
NM_004531.5(MOCS2):c.*44A>C	rs367775935
NM_004531.5(MOCS2):c.346_349del (p.Val116fs)	rs398122798
NM_004531.5(MOCS2):c.99-8_99-5del	rs779872271

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