ClinVar Miner

List of variants studied for Aspartylglucosaminuria by Fulgent Genetics, Fulgent Genetics

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00389
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00032
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00015
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421 0.00001
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer) rs1736926873 0.00001
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter) rs1736641565
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.113del (p.Asn38fs)
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.131G>A (p.Trp44Ter)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.385_394+15del
NM_000027.4(AGA):c.389_390del (p.Glu130fs) rs2476870897
NM_000027.4(AGA):c.595_596del (p.Glu199fs) rs2476862496
NM_000027.4(AGA):c.80dup (p.Pro28fs)
NM_000027.4(AGA):c.904G>C (p.Gly302Arg) rs121964905

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