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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 59

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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.143-15TC[5]	rs2144072738
NM_001739.2(CA5A):c.143-16G>A
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.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>T (p.Val171=)
NM_001739.2(CA5A):c.555+16G>T
NM_001739.2(CA5A):c.555+19G>A
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.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.775-10T>A
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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