ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000411.7(HLCS):c.-466A>G rs117138955
NM_000411.7(HLCS):c.-471A>G rs118091633
NM_000411.7(HLCS):c.-480-12A>G rs115866403
NM_000411.8(HLCS):c.-393+11G>T rs557368288
NM_000411.8(HLCS):c.-405T>C rs117476389
NM_000411.8(HLCS):c.-433C>T rs115711809
NM_001352514.2(HLCS):c.*1206C>A rs73902720
NM_001352514.2(HLCS):c.*1484A>G rs78926199
NM_001352514.2(HLCS):c.*259T>C rs73398122
NM_001352514.2(HLCS):c.*2622G>A rs14407
NM_001352514.2(HLCS):c.*3141_*3142dup rs3031056
NM_001352514.2(HLCS):c.*40A>G rs77014096
NM_001352514.2(HLCS):c.*521C>T rs9967991
NM_001352514.2(HLCS):c.*547C>T rs116526486
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=) rs1065758
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His) rs61732501
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) rs1065759
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009
NM_001352514.2(HLCS):c.2361C>T (p.Val787=) rs61732507
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) rs150665851
NM_001352514.2(HLCS):c.331-7111G>A rs77067023
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502

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