ClinVar Miner

List of variants reported as uncertain significance for Aspartylglucosaminuria by Illumina Laboratory Services, Illumina

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.*220G>C rs12502301 0.00696
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000027.4(AGA):c.*850C>T rs149021855 0.00370
NM_000027.4(AGA):c.*718G>A rs72988642 0.00364
NM_000027.4(AGA):c.*8T>C rs112307209 0.00255
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000027.4(AGA):c.*852C>T rs182081300 0.00096
NM_000027.4(AGA):c.*457A>G rs3749478 0.00087
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000027.4(AGA):c.*96A>T rs141424240 0.00076
NM_000027.4(AGA):c.*752G>C rs540646864 0.00042
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.*317T>C rs143028069 0.00034
NM_000027.4(AGA):c.*136T>C rs184905324 0.00028
NM_000027.4(AGA):c.*219T>C rs755458807 0.00019
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000027.4(AGA):c.*207T>C rs546644917 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.598G>A (p.Asp200Asn) rs761243441 0.00002
NM_000027.3(AGA):c.-94G>A rs886059264 0.00001
NM_000027.4(AGA):c.*48G>A rs752452878 0.00001
NM_000027.4(AGA):c.*635A>G rs1175193567 0.00001
NM_000027.4(AGA):c.*868C>G rs886059258 0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser) rs1489211352 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys) rs1254844989 0.00001
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263 0.00001
NM_000027.3(AGA):c.-127_-123delGGGAC rs886059265
NM_000027.4(AGA):c.*13G>C rs1736640377
NM_000027.4(AGA):c.*35G>C rs767154296
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*819CT[2] rs146345347
NM_000027.4(AGA):c.*851G>A rs186184411
NM_000027.4(AGA):c.*856C>G rs1736607561
NM_000027.4(AGA):c.*915G>A rs745380599
NM_000027.4(AGA):c.248G>A (p.Gly83Glu) rs903884327
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.449C>T (p.Ala150Val) rs1202403932
NM_000027.4(AGA):c.535T>C (p.Cys179Arg) rs1187962299
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262

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