ClinVar Miner

List of variants in gene CA5A reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001739.2(CA5A):c.143-9T>A rs12922226 0.41434
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311 0.16645
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698 0.16216
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391 0.02424
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082 0.01677
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) rs146136907 0.00428
NM_001739.2(CA5A):c.214A>C (p.Arg72=) rs150841082 0.00088
NM_001739.2(CA5A):c.267G>A (p.Ala89=) rs377436710 0.00006

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