List of variants in gene CA5A reported as benign for inborn disorder of amino acid metabolism

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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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.138C>A (p.Asn46Lys)	rs74041853	0.03363
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.340+20C>G	rs141166711	0.00319
NM_001739.2(CA5A):c.882G>A (p.Ala294=)	rs150891997	0.00200
NM_001739.2(CA5A):c.788G>A (p.Arg263His)	rs201195769	0.00131
NM_001739.2(CA5A):c.555+12C>G	rs183776303	0.00085
NM_001739.2(CA5A):c.172G>A (p.Val58Met)	rs200539625	0.00036
NM_001739.2(CA5A):c.543C>T (p.Gly181=)	rs534860826	0.00006
NM_001739.2(CA5A):c.460-14C>A

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