ClinVar Miner

List of variants in gene OTC reported as pathogenic by OMIM

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Total variants: 27
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HGVS dbSNP
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
OTC, DEL

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