ClinVar Miner

List of variants in gene OTC reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.127C>A (p.Leu43Ile) rs72554309 0.00010
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000531.6(OTC):c.380C>T (p.Thr127Met) rs762910963 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.218A>G (p.Tyr73Cys)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.791C>T (p.Thr264Ile) rs67156896

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