List of variants reported as likely pathogenic for Holocarboxylase synthetase deficiency by Invitae

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	rs1466111134	0.00001
NC_000021.8:g.(?_38126547)_(38139606_?)del
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)	rs119103227
NM_001352514.2(HLCS):c.1437+1G>A
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)	rs1198548955
NM_001352514.2(HLCS):c.1621-1G>C	rs1164174059
NM_001352514.2(HLCS):c.1621-2A>T
NM_001352514.2(HLCS):c.1892+1G>A
NM_001352514.2(HLCS):c.1960+1G>A	rs2090068896
NM_001352514.2(HLCS):c.2114_2121+5del
NM_001352514.2(HLCS):c.2237-2A>G
NM_001352514.2(HLCS):c.2237-56_2255del	rs2145732111
NM_001352514.2(HLCS):c.494-1G>A
NM_001352514.2(HLCS):c.494-2A>T

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