List of variants in gene SMIM27, TOPORS studied for inborn disorder of amino acid metabolism

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005802.5(TOPORS):c.-28G>C	rs15014	0.05757
NM_005802.5(TOPORS):c.-61G>A	rs189362662	0.00100
NM_005802.5(TOPORS):c.-64C>T	rs776476617	0.00001
NM_005802.5(TOPORS):c.3+3A>G	rs2040734643	0.00001

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