ClinVar Miner

List of variants in gene CEP83 reported as benign for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016122.3(CEP83):c.837T>C (p.Arg279=) rs4761611 0.75856
NM_016122.3(CEP83):c.1212A>G (p.Arg404=) rs12426243 0.09976
NM_016122.3(CEP83):c.626G>A (p.Arg209Gln) rs2271979 0.06722
NM_016122.3(CEP83):c.826C>T (p.Arg276Trp) rs74340001 0.04663
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) rs139046818 0.01207
NM_016122.3(CEP83):c.437C>T (p.Ala146Val) rs115988985 0.01012
NM_016122.3(CEP83):c.408T>C (p.Asn136=) rs148769208 0.00729
NM_016122.3(CEP83):c.324+12T>A rs200764782 0.00370
NM_016122.3(CEP83):c.1203C>T (p.Leu401=) rs189675715 0.00239
NM_016122.3(CEP83):c.1582T>C (p.Leu528=) rs199593910 0.00204
NM_016122.3(CEP83):c.786A>G (p.Thr262=) rs200666634 0.00006
NM_016122.3(CEP83):c.174-5dup rs753511833

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