ClinVar Miner

List of variants in gene AGA reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.4(AGA):c.*136T>C
NM_000027.4(AGA):c.*13G>C
NM_000027.4(AGA):c.*207T>C rs546644917
NM_000027.4(AGA):c.*219T>C
NM_000027.4(AGA):c.*220G>C rs12502301
NM_000027.4(AGA):c.*317T>C rs143028069
NM_000027.4(AGA):c.*35G>C
NM_000027.4(AGA):c.*3C>T
NM_000027.4(AGA):c.*457A>G
NM_000027.4(AGA):c.*48G>A rs752452878
NM_000027.4(AGA):c.*635A>G
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*718G>A rs72988642
NM_000027.4(AGA):c.*752G>C rs540646864
NM_000027.4(AGA):c.*819_*820CT[2] rs146345347
NM_000027.4(AGA):c.*850C>T rs149021855
NM_000027.4(AGA):c.*851G>A
NM_000027.4(AGA):c.*852C>T rs182081300
NM_000027.4(AGA):c.*856C>G
NM_000027.4(AGA):c.*868C>G rs886059258
NM_000027.4(AGA):c.*8T>C rs112307209
NM_000027.4(AGA):c.*915G>A
NM_000027.4(AGA):c.*96A>T rs141424240
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.128-7dup
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
NM_000027.4(AGA):c.507+5G>C
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-13T>G
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
NM_001171988.1(AGA):c.-94G>A rs886059264

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