ClinVar Miner

List of variants in gene OTC reported by Baylor Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.1006-2A>G
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) rs67418243
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.298+2T>C
NM_000531.6(OTC):c.477T>G (p.Ile159Met)
NM_000531.6(OTC):c.485G>C (p.Gly162Ala) rs72556272
NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)
NM_000531.6(OTC):c.563G>C (p.Gly188Ala)
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.731T>C (p.Leu244Pro) rs72558436
NM_000531.6(OTC):c.78-2A>G
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462

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