ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529 0.00086
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545 0.00036
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
NM_006348.5(COG5):c.454T>C (p.Leu152=) rs200107630 0.00016
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 0.00008
NM_006348.5(COG5):c.2168+9G>A rs746107488 0.00006
NM_006348.5(COG5):c.538+10T>G rs769195866 0.00001
NM_006348.5(COG5):c.836-9C>T rs757452204 0.00001
NM_006348.5(COG5):c.948+12A>T rs763696416

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