ClinVar Miner

List of variants in gene CA5A reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys) rs77325391
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys) rs74041853
NM_001739.2(CA5A):c.143-9T>A rs12922226
NM_001739.2(CA5A):c.453C>T (p.Pro151=) rs7186698
NM_001739.2(CA5A):c.645C>T (p.Phe215=) rs149154082
NM_001739.2(CA5A):c.807A>T (p.Ala269=) rs72816311
NM_001739.2(CA5A):c.882G>A (p.Ala294=) rs150891997

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