List of variants reported as likely benign for Holocarboxylase synthetase 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.*1744G>A	rs117270429	0.01206
NM_001352514.2(HLCS):c.*2624G>A	rs73210780	0.00769
NM_001352514.2(HLCS):c.331-7157C>T	rs149104163	0.00524
NM_001352514.2(HLCS):c.*1725A>G	rs73398120	0.00399
NM_001352514.2(HLCS):c.*3247A>G	rs114061673	0.00386
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)	rs116114362	0.00352
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)	rs149736764	0.00315
NM_001352514.2(HLCS):c.*19C>T	rs137949852	0.00259
NM_001352514.2(HLCS):c.*1324T>C	rs141644229	0.00024
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)	rs532108774	0.00004
NM_001352514.2(HLCS):c.*1589CAAA[2]	rs201997019
NM_001352514.2(HLCS):c.1620+7del	rs140568778

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