ClinVar Miner

List of variants reported as likely benign for Holocarboxylase synthetase deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 12
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HGVS dbSNP
NM_001352514.2(HLCS):c.*1324T>C rs141644229
NM_001352514.2(HLCS):c.*1589_*1592CAAA[2] rs201997019
NM_001352514.2(HLCS):c.*1725A>G rs73398120
NM_001352514.2(HLCS):c.*1744G>A rs117270429
NM_001352514.2(HLCS):c.*19C>T rs137949852
NM_001352514.2(HLCS):c.*2624G>A rs73210780
NM_001352514.2(HLCS):c.*3247A>G rs114061673
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) rs116114362
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=) rs532108774
NM_001352514.2(HLCS):c.331-7157C>T rs149104163

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