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

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.3141_3142dup	rs3031056	0.40694
NM_000411.7(HLCS):c.-480-12A>G	rs115866403	0.33322
NM_000411.8(HLCS):c.-405T>C	rs117476389	0.26368
NM_000411.7(HLCS):c.-466A>G	rs117138955	0.25759
NM_000411.7(HLCS):c.-471A>G	rs118091633	0.25745
NM_000411.8(HLCS):c.-433C>T	rs115711809	0.25319
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)	rs1065758	0.11920
NM_001352514.2(HLCS):c.*259T>C	rs73398122	0.06633
NM_001352514.2(HLCS):c.*521C>T	rs9967991	0.04663
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)	rs61732502	0.04059
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)	rs61732504	0.03941
NM_000411.8(HLCS):c.-393+11G>T	rs557368288	0.02745
NM_001352514.2(HLCS):c.*40A>G	rs77014096	0.02028
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)	rs61732507	0.02015
NM_001352514.2(HLCS):c.*1484A>G	rs78926199	0.01946
NM_001352514.2(HLCS):c.*547C>T	rs116526486	0.01940
NM_001352514.2(HLCS):c.331-7111G>A	rs77067023	0.01191
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)	rs1065759	0.01068
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)	rs61732501	0.00850
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)	rs75867009	0.00642
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)	rs2230182	0.00587
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)	rs150665851	0.00392
NM_001352514.2(HLCS):c.*1206C>A	rs73902720
NM_001352514.2(HLCS):c.*2622G>A	rs14407

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