ClinVar Miner

List of variants in gene CA5A reported as likely benign for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) rs146136907 0.00428
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala) rs148496007 0.00175
NM_001739.2(CA5A):c.214A>C (p.Arg72=) rs150841082 0.00088
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe) rs375321548 0.00021
NM_001739.2(CA5A):c.690C>T (p.Tyr230=) rs142006568 0.00019
NM_001739.2(CA5A):c.258C>T (p.Ser86=) rs145171357 0.00016
NM_001739.2(CA5A):c.459+10C>T rs368408382 0.00010
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr) rs377135599 0.00009
NM_001739.2(CA5A):c.774+7C>T rs373877038 0.00009
NM_001739.2(CA5A):c.624G>A (p.Ala208=) rs370926490 0.00008
NM_001739.2(CA5A):c.267G>A (p.Ala89=) rs377436710 0.00006
NM_001739.2(CA5A):c.450C>T (p.Tyr150=) rs368084033 0.00006
NM_001739.2(CA5A):c.720C>A (p.Thr240=) rs547918689 0.00006
NM_001739.2(CA5A):c.438C>T (p.Asp146=) rs143279008 0.00005
NM_001739.2(CA5A):c.619-7C>T rs558522180 0.00004
NM_001739.2(CA5A):c.753C>T (p.Pro251=) rs748576210 0.00004
NM_001739.2(CA5A):c.687C>T (p.Thr229=) rs369600488 0.00003
NM_001739.2(CA5A):c.340+16G>A rs1278259154 0.00002
NM_001739.2(CA5A):c.340+7G>A rs1319117167 0.00002
NM_001739.2(CA5A):c.444C>T (p.His148=) rs575569678 0.00002
NM_001739.2(CA5A):c.849A>G (p.Pro283=) rs764416139 0.00002
NM_001739.2(CA5A):c.630G>A (p.Ala210=) rs1399915166 0.00001
NM_001739.2(CA5A):c.726G>A (p.Ser242=) rs562598251 0.00001
NM_001739.2(CA5A):c.777C>G (p.Leu259=) rs762128732 0.00001
NM_001739.2(CA5A):c.142+14C>G
NM_001739.2(CA5A):c.143-15TC[5] rs2144072738
NM_001739.2(CA5A):c.143-16G>A
NM_001739.2(CA5A):c.143-4G>A
NM_001739.2(CA5A):c.153C>A (p.Leu51=)
NM_001739.2(CA5A):c.159G>A (p.Thr53=)
NM_001739.2(CA5A):c.165G>A (p.Pro55=)
NM_001739.2(CA5A):c.178G>C (p.Gly60Arg)
NM_001739.2(CA5A):c.18T>C (p.Thr6=) rs748244375
NM_001739.2(CA5A):c.219C>T (p.Asp73=) rs1213799028
NM_001739.2(CA5A):c.249C>G (p.Leu83=)
NM_001739.2(CA5A):c.255C>G (p.Val85=)
NM_001739.2(CA5A):c.279G>A (p.Leu93=)
NM_001739.2(CA5A):c.300C>T (p.Tyr100=)
NM_001739.2(CA5A):c.30A>G (p.Ser10=)
NM_001739.2(CA5A):c.340+17G>C
NM_001739.2(CA5A):c.345T>C (p.Ile115=)
NM_001739.2(CA5A):c.411C>T (p.Asn137=)
NM_001739.2(CA5A):c.414G>A (p.Glu138=)
NM_001739.2(CA5A):c.429C>T (p.His143=)
NM_001739.2(CA5A):c.447G>A (p.Ala149=)
NM_001739.2(CA5A):c.459+11G>A
NM_001739.2(CA5A):c.459+7A>T
NM_001739.2(CA5A):c.510T>A (p.Ala170=)
NM_001739.2(CA5A):c.513C>G (p.Val171=)
NM_001739.2(CA5A):c.513C>T (p.Val171=)
NM_001739.2(CA5A):c.555+16G>T
NM_001739.2(CA5A):c.555+19G>A
NM_001739.2(CA5A):c.556-13G>T
NM_001739.2(CA5A):c.558C>T (p.Leu186=)
NM_001739.2(CA5A):c.588G>C (p.Leu196=) rs2055884463
NM_001739.2(CA5A):c.603G>A (p.Pro201=)
NM_001739.2(CA5A):c.618+10A>G
NM_001739.2(CA5A):c.618+16G>C
NM_001739.2(CA5A):c.619-11C>T
NM_001739.2(CA5A):c.699G>A (p.Ser233=)
NM_001739.2(CA5A):c.711G>A (p.Pro237=)
NM_001739.2(CA5A):c.720C>T (p.Thr240=)
NM_001739.2(CA5A):c.732C>G (p.Thr244=)
NM_001739.2(CA5A):c.774+13C>T
NM_001739.2(CA5A):c.774+14G>A
NM_001739.2(CA5A):c.775-10T>A
NM_001739.2(CA5A):c.775-20C>T
NM_001739.2(CA5A):c.819G>A (p.Glu273=) rs2143888655
NM_001739.2(CA5A):c.81G>A (p.Ser27=)
NM_001739.2(CA5A):c.846C>T (p.Arg282=) rs767556079
NM_001739.2(CA5A):c.852T>G (p.Leu284=)
NM_001739.2(CA5A):c.867C>T (p.Asn289=)
NM_001739.2(CA5A):c.885C>T (p.Ser295=)

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