ClinVar Miner

List of variants in gene CA8 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004056.6(CA8):c.327A>G (p.Glu109=) rs7464181 0.51676
NM_004056.6(CA8):c.334C>T (p.Leu112=) rs61743130 0.05823
NM_004056.6(CA8):c.66A>G (p.Glu22=) rs115885226 0.01439
NM_004056.6(CA8):c.299C>T (p.Ser100Leu) rs149391728 0.00815
NM_004056.6(CA8):c.795C>A (p.Gly265=) rs147080672 0.00112
NM_004056.6(CA8):c.100+8G>A rs1403081698 0.00001
NM_004056.6(CA8):c.513+7G>A rs756768339 0.00001
NM_004056.6(CA8):c.449T>C (p.Phe150Ser) rs780978826

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