ClinVar Miner

List of variants in gene AK2 studied for reticular dysgenesis

Included ClinVar conditions (1):
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440 0.00783
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965 0.00379
NM_001625.4(AK2):c.219+19A>G rs148975919 0.00349
NM_001625.4(AK2):c.582C>T (p.Thr194=) rs111261425 0.00338
NM_001625.4(AK2):c.460G>A (p.Glu154Lys) rs148421308 0.00208
NM_001625.4(AK2):c.597G>A (p.Glu199=) rs150186080 0.00123
NM_001625.4(AK2):c.255G>A (p.Lys85=) rs41301072 0.00111
NM_001625.4(AK2):c.642G>A (p.Gln214=) rs149659319 0.00099
NM_001625.4(AK2):c.247A>G (p.Ile83Val) rs184683619 0.00047
NM_001625.4(AK2):c.624C>T (p.Ser208=) rs779366586 0.00045
NM_001625.4(AK2):c.603C>T (p.Tyr201=) rs138151595 0.00034
NM_001625.4(AK2):c.224G>T (p.Ser75Ile) rs140838488 0.00032
NM_001625.4(AK2):c.611G>A (p.Arg204Gln) rs200179721 0.00026
NM_001625.4(AK2):c.631G>A (p.Asp211Asn) rs143825456 0.00015
NM_001625.4(AK2):c.648C>T (p.Pro216=) rs201622956 0.00015
NM_001625.4(AK2):c.333C>T (p.Leu111=) rs200433299 0.00014
NM_001625.4(AK2):c.117C>T (p.Phe39=) rs764509277 0.00011
NM_001625.4(AK2):c.229G>A (p.Glu77Lys) rs370935115 0.00009
NM_001625.4(AK2):c.661G>A (p.Ala221Thr) rs201817938 0.00009
NM_001625.4(AK2):c.504C>T (p.Thr168=) rs61750964 0.00008
NM_001625.4(AK2):c.171C>A (p.Gly57=) rs61755973 0.00007
NM_001625.4(AK2):c.630C>G (p.Ile210Met) rs746330303 0.00007
NM_001625.4(AK2):c.499-11C>T rs201868300 0.00006
NM_001625.4(AK2):c.660C>T (p.Phe220=) rs566166581 0.00006
NM_001625.4(AK2):c.277A>G (p.Lys93Glu) rs767276648 0.00005
NM_001625.4(AK2):c.615G>C (p.Gly205=) rs769651837 0.00005
NM_001625.4(AK2):c.226G>A (p.Asp76Asn) rs755150735 0.00004
NM_001625.4(AK2):c.349A>G (p.Lys117Glu) rs1340710121 0.00004
NM_001625.4(AK2):c.433C>G (p.His145Asp) rs749178848 0.00004
NM_001625.4(AK2):c.449G>A (p.Arg150His) rs149227118 0.00004
NM_001625.4(AK2):c.472C>T (p.Pro158Ser) rs552815574 0.00004
NM_001625.4(AK2):c.655G>A (p.Val219Met) rs755736918 0.00004
NM_001625.4(AK2):c.438C>T (p.Pro146=) rs987764285 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_001625.4(AK2):c.499-8G>T rs752613147 0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645 0.00003
NM_001625.4(AK2):c.557G>A (p.Arg186His) rs754485826 0.00003
NM_001625.4(AK2):c.670C>G (p.Leu224Val) rs771562640 0.00003
NM_001625.4(AK2):c.331-11T>C rs184410375 0.00002
NM_001625.4(AK2):c.470A>G (p.Asn157Ser) rs371672441 0.00002
NM_001625.4(AK2):c.498C>T (p.Asp166=) rs747101216 0.00002
NM_001625.4(AK2):c.638C>A (p.Ser213Tyr) rs139238739 0.00002
NM_001625.4(AK2):c.710T>C (p.Met237Thr) rs752903099 0.00002
NM_001625.4(AK2):c.94G>A (p.Ala32Thr) rs779260498 0.00002
NM_001625.4(AK2):c.162G>A (p.Val54=) rs1227843304 0.00001
NM_001625.4(AK2):c.199A>G (p.Thr67Ala) rs771799826 0.00001
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916 0.00001
NM_001625.4(AK2):c.220-7C>T rs1195194137 0.00001
NM_001625.4(AK2):c.307C>A (p.Arg103=) rs267606648 0.00001
NM_001625.4(AK2):c.330+8G>C rs781550197 0.00001
NM_001625.4(AK2):c.410G>A (p.Arg137Gln) rs1167260548 0.00001
NM_001625.4(AK2):c.419C>T (p.Thr140Ile) rs192209857 0.00001
NM_001625.4(AK2):c.499-13T>C rs749143789 0.00001
NM_001625.4(AK2):c.499-5C>T rs1421627521 0.00001
NM_001625.4(AK2):c.505G>A (p.Gly169Arg) rs1452627532 0.00001
NM_001625.4(AK2):c.532G>A (p.Asp178Asn) rs1000645415 0.00001
NM_001625.4(AK2):c.610C>T (p.Arg204Trp) rs370429097 0.00001
NC_000001.10:g.(?_33473829)_(33478866_?)del
NC_000001.10:g.(?_33480103)_(33480215_?)del
NC_000001.10:g.(?_33490023)_(33502429_?)del
NC_000001.10:g.(?_33502317)_(33502429_?)dup
NC_000001.11:g.(?_33024422)_(33024587_?)del
NG_016269.1:g.(5157_17324)_(17451_20188)del
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.128A>G (p.His43Arg) rs1639754142
NM_001625.4(AK2):c.129T>C (p.His43=)
NM_001625.4(AK2):c.132A>G (p.Leu44=)
NM_001625.4(AK2):c.141G>T (p.Gly47=)
NM_001625.4(AK2):c.154G>C (p.Ala52Pro) rs1553152678
NM_001625.4(AK2):c.165T>C (p.Ala55=)
NM_001625.4(AK2):c.179T>A (p.Leu60Gln) rs2124345322
NM_001625.4(AK2):c.196G>A (p.Ala66Thr)
NM_001625.4(AK2):c.203T>C (p.Met68Thr) rs1639747572
NM_001625.4(AK2):c.216A>G (p.Lys72=) rs2124345022
NM_001625.4(AK2):c.219+16C>T
NM_001625.4(AK2):c.219+20T>A rs377400886
NM_001625.4(AK2):c.219+20T>C
NM_001625.4(AK2):c.220-12C>T
NM_001625.4(AK2):c.220-2dup rs2124330418
NM_001625.4(AK2):c.220-5del rs752085550
NM_001625.4(AK2):c.224G>A (p.Ser75Asn) rs140838488
NM_001625.4(AK2):c.284G>A (p.Gly95Asp) rs1639563562
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.322G>A (p.Ala108Thr) rs1639560113
NM_001625.4(AK2):c.330+18T>C
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001625.4(AK2):c.331-12A>G rs2124328960
NM_001625.4(AK2):c.331-15C>T
NM_001625.4(AK2):c.331-1G>A rs1192619329
NM_001625.4(AK2):c.331-3C>T rs759338139
NM_001625.4(AK2):c.336_338del (p.Asp113del) rs1639549493
NM_001625.4(AK2):c.343A>T (p.Met115Leu) rs552302095
NM_001625.4(AK2):c.346G>A (p.Glu116Lys)
NM_001625.4(AK2):c.374_375del (p.Val125fs)
NM_001625.4(AK2):c.376A>G (p.Ile126Val) rs747116598
NM_001625.4(AK2):c.409C>T (p.Arg137Ter) rs1476680673
NM_001625.4(AK2):c.424A>G (p.Arg142Gly)
NM_001625.4(AK2):c.425+14G>C
NM_001625.4(AK2):c.426-17_426-14del
NM_001625.4(AK2):c.426-19T>C
NM_001625.4(AK2):c.426-20_426-19del rs751605899
NM_001625.4(AK2):c.429G>C (p.Leu143=)
NM_001625.4(AK2):c.432T>G (p.Ile144Met)
NM_001625.4(AK2):c.453C>A (p.Ser151=)
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001625.4(AK2):c.457C>G (p.His153Asp) rs1164598375
NM_001625.4(AK2):c.462G>T (p.Glu154Asp) rs1569584622
NM_001625.4(AK2):c.463G>A (p.Glu155Lys)
NM_001625.4(AK2):c.465G>A (p.Glu155=)
NM_001625.4(AK2):c.471C>G (p.Asn157Lys) rs146442876
NM_001625.4(AK2):c.471C>T (p.Asn157=)
NM_001625.4(AK2):c.488T>C (p.Met163Thr) rs1017955673
NM_001625.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_001625.4(AK2):c.498+14G>A
NM_001625.4(AK2):c.498+14G>T
NM_001625.4(AK2):c.523del (p.Arg175fs) rs1553150995
NM_001625.4(AK2):c.524G>C (p.Arg175Pro) rs1243124080
NM_001625.4(AK2):c.530A>G (p.Asp177Gly) rs1638970615
NM_001625.4(AK2):c.543G>C (p.Lys181Asn) rs72884305
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001625.4(AK2):c.545C>T (p.Ala182Val) rs559947967
NM_001625.4(AK2):c.571C>G (p.His191Asp) rs80324279
NM_001625.4(AK2):c.575C>A (p.Thr192Asn) rs1327622268
NM_001625.4(AK2):c.580A>G (p.Thr194Ala) rs2124279813
NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter) rs2124279569
NM_001625.4(AK2):c.605G>C (p.Arg202Thr) rs2124279468
NM_001625.4(AK2):c.614_615del (p.Gly205fs) rs746465070
NM_001625.4(AK2):c.622T>C (p.Ser208Pro) rs776378314
NM_001625.4(AK2):c.625G>T (p.Ala209Ser) rs12116440
NM_001625.4(AK2):c.630C>T (p.Ile210=) rs746330303
NM_001625.4(AK2):c.634G>A (p.Ala212Thr) rs1638952544
NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
NM_001625.4(AK2):c.636_*791del (p.Ala212_Ter240delinsXaa) rs1570186429
NM_001625.4(AK2):c.654C>T (p.Val218=) rs765292604
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_001625.4(AK2):c.698_703delinsGACACATAAACATAAACATAAACTCA (p.Lys233fs)
NM_001625.4(AK2):c.708_710dup (p.Val236_Met237insIle) rs2124278114
NM_001625.4(AK2):c.714dup (p.Ile239fs) rs2124278051
NM_001625.4(AK2):c.720A>G (p.Ter240=) rs375860853
NM_001625.4(AK2):c.94-8C>G
NM_001625.4(AK2):c.98C>A (p.Pro33His)

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