ClinVar Miner

Variants in gene COG5 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.539-17G>A rs150929025 0.01278
NM_006348.5(COG5):c.876T>G (p.Thr292=) rs74522314 0.00898
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_006348.5(COG5):c.735T>A (p.Ile245=) rs116603307 0.00385
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.451A>G (p.Ile151Val) rs79413133 0.00091
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) rs184902233 0.00056
NM_006348.5(COG5):c.538+20del rs201626701

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