List of variants in gene combination LOC121815974, OAT reported as uncertain significance for Ornithine aminotransferase deficiency

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000274.4(OAT):c.740T>C (p.Met247Thr)	rs140966644	0.00021
NM_000274.4(OAT):c.736C>T (p.Leu246=)	rs146882296	0.00013
NM_000274.4(OAT):c.649C>T (p.Arg217Cys)	rs370970194	0.00005
NM_000274.4(OAT):c.650G>A (p.Arg217His)	rs774853325	0.00003
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	rs386833615	0.00001
NC_000010.10:g.(?_126086491)_(126100760_?)dup
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
NM_000274.4(OAT):c.718G>A (p.Val240Ile)	rs777488833

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