ClinVar Miner

List of variants in gene OTC reported as uncertain significance by Invitae

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.83G>A (p.Gly28Glu) rs199858968 0.00013
NM_000531.6(OTC):c.127C>A (p.Leu43Ile) rs72554309 0.00010
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417 0.00009
NM_000531.6(OTC):c.761C>T (p.Ala254Val) rs781179862 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000531.6(OTC):c.808C>G (p.Gln270Glu) rs72558451 0.00002
NM_000531.6(OTC):c.89C>A (p.Pro30Gln) rs753712951 0.00002
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.401T>C (p.Met134Thr) rs1380616457 0.00001
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.6(OTC):c.1005G>A (p.Met335Ile) rs281865553
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro) rs2068592679
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
NM_000531.6(OTC):c.139A>C (p.Asn47His)
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
NM_000531.6(OTC):c.188T>C (p.Leu63Pro) rs72554324
NM_000531.6(OTC):c.216+5G>A
NM_000531.6(OTC):c.241T>C (p.Ser81Pro) rs2147324956
NM_000531.6(OTC):c.242C>T (p.Ser81Phe) rs2068314927
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del) rs2068315148
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+3_298+6del rs2068315608
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
NM_000531.6(OTC):c.386+9A>G
NM_000531.6(OTC):c.387T>C (p.Arg129=)
NM_000531.6(OTC):c.425T>G (p.Val142Gly) rs72556261
NM_000531.6(OTC):c.439G>C (p.Asp147His)
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.473C>G (p.Pro158Arg) rs2068485732
NM_000531.6(OTC):c.523G>A (p.Asp175Asn) rs2068486828
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
NM_000531.6(OTC):c.530T>C (p.Leu177Pro) rs2068487036
NM_000531.6(OTC):c.530T>G (p.Leu177Arg) rs2068487036
NM_000531.6(OTC):c.541-12C>A rs2068500853
NM_000531.6(OTC):c.54C>A (p.His18Gln) rs2147315516
NM_000531.6(OTC):c.641A>G (p.His214Arg)
NM_000531.6(OTC):c.642C>A (p.His214Gln)
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
NM_000531.6(OTC):c.77+5G>A rs72552302
NM_000531.6(OTC):c.774T>A (p.Asn258Lys) rs777282515
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
NM_000531.6(OTC):c.862A>G (p.Met288Val)
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000531.6(OTC):c.889G>A (p.Asp297Asn) rs2068544820
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
NM_000531.6(OTC):c.916A>G (p.Arg306Gly) rs2147346548
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013
NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del) rs1555976710
NM_000531.6(OTC):c.959G>A (p.Arg320Gln) rs72558474
NM_000531.6(OTC):c.976G>A (p.Glu326Lys) rs72558476

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