ClinVar Miner

List of variants in gene AGA 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: 69
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HGVS dbSNP
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656
NM_000027.4(AGA):c.127+8T>C
NM_000027.4(AGA):c.129G>A (p.Ala43=)
NM_000027.4(AGA):c.150A>T (p.Gly50=)
NM_000027.4(AGA):c.153C>A (p.Gly51=)
NM_000027.4(AGA):c.153C>T (p.Gly51=)
NM_000027.4(AGA):c.160C>T (p.Leu54=)
NM_000027.4(AGA):c.171G>A (p.Val57=)
NM_000027.4(AGA):c.177C>T (p.Ser59=)
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=)
NM_000027.4(AGA):c.204G>A (p.Gln68=)
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187
NM_000027.4(AGA):c.219A>G (p.Val73=)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.281+8C>T
NM_000027.4(AGA):c.282-9T>G
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.348G>A (p.Arg116=)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10T>G
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.394+7_394+10del
NM_000027.4(AGA):c.395-4C>T
NM_000027.4(AGA):c.395-7T>C
NM_000027.4(AGA):c.402A>G (p.Thr134=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.432A>G (p.Glu144=)
NM_000027.4(AGA):c.435C>T (p.Asp145=)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.48C>A (p.Leu16=)
NM_000027.4(AGA):c.48C>T (p.Leu16=)
NM_000027.4(AGA):c.507+10C>T
NM_000027.4(AGA):c.507+8C>T
NM_000027.4(AGA):c.537C>T (p.Cys179=)
NM_000027.4(AGA):c.549A>G (p.Lys183=)
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.600T>C (p.Asp200=)
NM_000027.4(AGA):c.623-6T>C
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.63G>A (p.Val21=)
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.705A>G (p.Val235=)
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
NM_000027.4(AGA):c.741T>C (p.Ala247=)
NM_000027.4(AGA):c.750T>C (p.Thr250=)
NM_000027.4(AGA):c.75C>T (p.Ser25=)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.780T>C (p.Gly260=)
NM_000027.4(AGA):c.852A>T (p.Ile284=)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.894A>G (p.Pro298=)
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.906G>A (p.Gly302=)
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572
NM_000027.4(AGA):c.940+8G>A
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.941-7G>T
NM_000027.4(AGA):c.941-8G>T
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000027.4(AGA):c.978T>C (p.Phe326=)
NM_000027.4(AGA):c.999C>G (p.Ser333=)
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564

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