ClinVar Miner

List of variants in gene OTC reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.-359G>A rs5917573 0.69913
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.-365G>A rs5963030 0.13285
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.1005+1133A>G rs56125451 0.02726
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059 0.00013
NM_000531.6(OTC):c.83G>A (p.Gly28Glu) rs199858968 0.00013
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417 0.00009
NM_000531.6(OTC):c.675G>A (p.Pro225=) rs376129619 0.00009
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935 0.00005
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.272C>T (p.Thr91Ile) rs372906667 0.00002
NM_000531.6(OTC):c.375G>A (p.Thr125=) rs371075231 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) rs2068592611
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.433C>A (p.Gln145Lys) rs753584565
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473

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