List of variants in gene HTRA2, LOXL3 studied for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_013247.5(HTRA2):c.1138C>T (p.Arg380Ter)	rs1407675367	0.00001
NM_013247.5(HTRA2):c.1211G>A (p.Arg404Gln)	rs767006508	0.00001
NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter)	rs746665790	0.00001
NM_013247.5(HTRA2):c.1216G>T (p.Gly406Cys)
NM_013247.5(HTRA2):c.1316_1320del (p.Val439fs)	rs1057519080

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