ClinVar Miner

List of variants studied for Holocarboxylase synthetase deficiency by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001352514.2(HLCS):c.1893-46G>T rs2073421 0.59296
NM_001352514.2(HLCS):c.1438-36G>A rs2073425 0.55169
NM_001352514.2(HLCS):c.2122-30G>A rs2073420 0.40931
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758 0.11920
NM_001352514.2(HLCS):c.*40A>G rs77014096 0.02028
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile) rs149291867 0.00087
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg) rs748444836
NM_001352514.2(HLCS):c.1960+117A>T rs2835455
NM_001352514.2(HLCS):c.2450+136C>T rs9977769
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=) rs767700692

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