ClinVar Miner

List of variants in gene AGA reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.394+254G>T rs6830102 0.99490
NM_000027.4(AGA):c.699-25G>C rs4690521 0.98895
NM_000027.4(AGA):c.699-237G>A rs4690385 0.93858
NM_000027.4(AGA):c.395-185A>G rs6855346 0.93268
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.93245
NM_000027.4(AGA):c.807-179T>A rs10031429 0.86404
NM_000027.4(AGA):c.807-166G>T rs2279931 0.68407
NM_000027.4(AGA):c.941-84C>G rs3805167 0.65485
NM_000027.4(AGA):c.127+25C>T rs11131799 0.60222
NM_000027.4(AGA):c.128-41A>T rs3792607 0.53603
NM_000027.4(AGA):c.*183A>C rs1061814 0.50675
NM_000027.4(AGA):c.281+265A>G rs4690523 0.45074
NM_000027.4(AGA):c.507+180T>C rs2271101 0.44918
NM_000027.4(AGA):c.282-209G>T rs4690522 0.28672
NM_000027.4(AGA):c.394+180G>A rs13149149 0.26012
NM_000027.4(AGA):c.806+202C>G rs35078952 0.25655
NM_000027.4(AGA):c.507+220A>G rs2271100 0.19410
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000027.4(AGA):c.623-67_623-62dup rs71599314 0.19187
NM_000027.4(AGA):c.395-134G>A rs6829436 0.10720
NM_000027.4(AGA):c.395-254C>T rs34413069 0.02747
NM_000027.4(AGA):c.698+64G>A rs79838824 0.02648
NM_000027.4(AGA):c.508-193G>A rs115421790 0.02267
NM_000027.4(AGA):c.623-284C>T rs116274738 0.02263
NM_000027.4(AGA):c.128-267C>T rs79341619 0.02221
NM_000027.4(AGA):c.806+232A>G rs146399812 0.01396
NM_000027.4(AGA):c.394+285C>A rs149652332 0.01149
NM_000027.4(AGA):c.623-173C>T rs76316033 0.01148
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.282-157G>C rs148778262 0.00960
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.622+252del rs145523464 0.00775
NM_000027.4(AGA):c.127+203C>T rs139415046 0.00741
NM_000027.4(AGA):c.395-155G>A rs77927123 0.00737
NM_000027.4(AGA):c.*220G>C rs12502301 0.00732
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00389
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000027.4(AGA):c.941-253G>A rs114891244 0.00337
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00180
NM_000027.4(AGA):c.923A>G (p.Asn308Ser) rs371221470 0.00014
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000027.4(AGA):c.508-2A>G rs986682657 0.00001
NM_000027.4(AGA):c.785T>C (p.Ile262Thr) rs772697272 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.128-226del rs746624930
NM_000027.4(AGA):c.128-238_128-237dup rs746624930
NM_000027.4(AGA):c.21G>T (p.Leu7Phe)
NM_000027.4(AGA):c.282-176del rs11312963
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.464A>G (p.His155Arg) rs1736900896
NM_000027.4(AGA):c.49T>C (p.Cys17Arg) rs2111028342
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del) rs764622951
NM_000027.4(AGA):c.941-243CAA[3] rs374713074

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