List of variants in gene HLCS, LOC130066639 studied for Holocarboxylase synthetase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NC_000021.9:g.36990257T>C	rs115866403	0.33322
NM_000411.8(HLCS):c.-405T>C	rs117476389	0.26368
NM_000411.7(HLCS):c.-466A>G	rs117138955	0.26059
NM_000411.7(HLCS):c.-471A>G	rs118091633	0.25745
NM_000411.8(HLCS):c.-433C>T	rs115711809	0.25319
NM_000411.8(HLCS):c.-393+11G>T	rs557368288	0.02703
NM_000411.8(HLCS):c.-393+7C>T	rs886057081	0.00001

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