ClinVar Miner

List of variants in gene CA4 reported as benign for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000717.5(CA4):c.-24G>C rs345191 0.03134
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_000717.5(CA4):c.*17G>A rs2229179 0.00893
NM_000717.5(CA4):c.716G>A (p.Arg239Gln) rs76995634 0.00739
NM_000717.5(CA4):c.-47C>G rs367981628 0.00279
NM_000717.5(CA4):c.869C>T (p.Pro290Leu) rs146141867 0.00150
NM_000717.5(CA4):c.531C>A (p.Asn177Lys) rs185942554 0.00077

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