ClinVar Miner

List of variants in gene OTC reported as likely benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.1006-235C>A rs142714285 0.01780
NC_000023.11:g.38352403G>A rs139948134 0.00735
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
NM_000531.6(OTC):c.541-214G>A rs189677998 0.00571
NM_000531.6(OTC):c.540+106A>G rs146029887 0.00559
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000531.6(OTC):c.868-177A>T rs190591013 0.00546
NM_000531.6(OTC):c.867+1061G>T rs181507702 0.00533
NM_000531.6(OTC):c.299-147T>G rs183024179 0.00449
NM_000531.6(OTC):c.868-126G>A rs749336683 0.00355
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.-48G>T rs182454762 0.00090
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
NM_000531.6(OTC):c.498G>T (p.Leu166Phe) rs759911602 0.00004
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.762G>T (p.Ala254=) rs1388386866 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000531.6(OTC):c.-4G>A rs796052014 0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.217-265dup rs11313102
NM_000531.6(OTC):c.299-8del rs764551624
NM_000531.6(OTC):c.396T>C (p.Ser132=) rs1602029553
NM_000531.6(OTC):c.541-8C>T rs1602030926
NM_000531.6(OTC):c.672G>A (p.Glu224=)
NM_000531.6(OTC):c.78-102_78-99del rs771404957
NM_000531.6(OTC):c.78-208C>T rs141768896
NM_000531.6(OTC):c.840T>G (p.Ala280=) rs2147345258
NM_000531.6(OTC):c.868-183_868-182dup rs368534980
NM_000531.6(OTC):c.868-184_868-182dup rs368534980

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