ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001739.2(CA5A):c.143-15TC[5]
NM_001739.2(CA5A):c.214A>C (p.Arg72=) rs150841082
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr) rs377135599
NM_001739.2(CA5A):c.450C>T (p.Tyr150=) rs368084033
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe) rs375321548
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
NM_001739.2(CA5A):c.720C>A (p.Thr240=) rs547918689
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) rs146136907
NM_001739.2(CA5A):c.774+7C>T rs373877038
NM_001739.2(CA5A):c.819G>A (p.Glu273=)
NM_001739.2(CA5A):c.849A>G (p.Pro283=)

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