ClinVar Miner

List of variants in gene OTC reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_000531.6(OTC):c.122A>T (p.Asp41Val) rs74518351
NM_000531.6(OTC):c.382G>C (p.Ala128Pro) rs886043507
NM_000531.6(OTC):c.470T>C (p.Ile157Thr) rs1569279421
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000531.6(OTC):c.725C>A (p.Thr242Asn) rs72558435
NM_000531.6(OTC):c.808C>G (p.Gln270Glu) rs72558451
NM_000531.6(OTC):c.868-3T>C rs398123459
NM_000531.6(OTC):c.870T>C (p.Thr290=) rs794727959

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