List of variants in gene combination FAH, LOC112272621 reported as likely pathogenic for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000137.4(FAH):c.315-3C>G	rs1171235203	0.00001
NM_000137.4(FAH):c.315-1G>A
NM_000137.4(FAH):c.315-2A>G	rs1555440603
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)	rs754444882
NM_000137.4(FAH):c.364+2T>C	rs1595890740
NM_000137.4(FAH):c.364+2T>G	rs1595890740

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