ClinVar Miner

Variants in gene OTOG with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001292063.2(OTOG):c.311A>G (p.Asn104Ser) rs534942001 0.00140
NM_001292063.2(OTOG):c.4314C>T (p.Val1438=) rs150138913 0.00088
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys) rs533820347 0.00056
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237

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