ClinVar Miner

List of variants in gene OGT reported as uncertain significance for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_181672.3(OGT):c.2693A>G (p.Asn898Ser) rs899091443 0.00003
NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) rs766646613 0.00002
NM_181672.3(OGT):c.349C>T (p.Arg117Cys) rs1317050680 0.00001
NM_181672.3(OGT):c.1357C>G (p.Arg453Gly)
NM_181672.3(OGT):c.140T>G (p.Leu47Arg)
NM_181672.3(OGT):c.1664G>A (p.Arg555Gln)
NM_181672.3(OGT):c.1709C>T (p.Thr570Ile)
NM_181672.3(OGT):c.2218G>A (p.Asp740Asn)
NM_181672.3(OGT):c.2429C>G (p.Thr810Ser)
NM_181672.3(OGT):c.2501A>G (p.Gln834Arg) rs2147691043
NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) rs2040424398
NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)
NM_181672.3(OGT):c.2855C>T (p.Ala952Val)
NM_181672.3(OGT):c.3029A>G (p.Lys1010Arg)
NM_181672.3(OGT):c.420A>T (p.Glu140Asp) rs2040191879
NM_181672.3(OGT):c.596G>A (p.Cys199Tyr)
NM_181672.3(OGT):c.929C>T (p.Ala310Val) rs2147682972
NM_181672.3(OGT):c.955G>A (p.Ala319Thr) rs1602147851

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