ClinVar Miner

List of variants in gene OXCT1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231 0.00520
NM_000436.4(OXCT1):c.279-7C>T rs200695197 0.00436
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) rs142383658 0.00320
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_000436.4(OXCT1):c.173C>T (p.Thr58Met) rs75134564 0.00053
NM_000436.4(OXCT1):c.79-11del rs748715820

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