ClinVar Miner

List of variants in gene ABRAXAS1 reported as likely benign by Invitae

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala) rs138986552 0.00080
NM_139076.3(ABRAXAS1):c.897G>A (p.Met299Ile) rs140407442 0.00070
NM_139076.3(ABRAXAS1):c.680A>C (p.Lys227Thr) rs149091407 0.00043
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs) rs764429803 0.00031
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_139076.3(ABRAXAS1):c.797-19G>A rs199624910 0.00026
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=) rs367969368 0.00011
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=) rs201470211 0.00010
NM_139076.3(ABRAXAS1):c.402A>G (p.Leu134=) rs566419345 0.00009
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190 0.00007
NM_139076.3(ABRAXAS1):c.1214G>C (p.Arg405Pro) rs200281698 0.00006
NM_139076.3(ABRAXAS1):c.776G>C (p.Gly259Ala) rs201475497 0.00005
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=) rs769383568 0.00004
NM_139076.3(ABRAXAS1):c.179-12C>G rs773912114 0.00003
NM_139076.3(ABRAXAS1):c.315T>C (p.His105=) rs375331034 0.00003
NM_139076.3(ABRAXAS1):c.797-11A>C rs776370144 0.00003
NM_139076.3(ABRAXAS1):c.1077A>G (p.Arg359=) rs929635919 0.00002
NM_139076.3(ABRAXAS1):c.144C>T (p.Ser48=) rs763350470 0.00002
NM_139076.3(ABRAXAS1):c.682-14A>G rs370019011 0.00002
NM_139076.3(ABRAXAS1):c.918T>C (p.Val306=) rs766011574 0.00002
NM_139076.3(ABRAXAS1):c.1035G>A (p.Lys345=) rs1236290730 0.00001
NM_139076.3(ABRAXAS1):c.1038T>C (p.His346=) rs750046185 0.00001
NM_139076.3(ABRAXAS1):c.1113A>G (p.Lys371=) rs1204035867 0.00001
NM_139076.3(ABRAXAS1):c.1158C>T (p.Ser386=) rs758296226 0.00001
NM_139076.3(ABRAXAS1):c.215+16_215+17insT rs769469869 0.00001
NM_139076.3(ABRAXAS1):c.333G>A (p.Thr111=) rs751175389 0.00001
NM_139076.3(ABRAXAS1):c.447G>A (p.Leu149=) rs758037982 0.00001
NM_139076.3(ABRAXAS1):c.477-13T>C rs1284794023 0.00001
NM_139076.3(ABRAXAS1):c.492A>G (p.Val164=) rs747767327 0.00001
NM_139076.3(ABRAXAS1):c.576C>T (p.Ser192=) rs746347317 0.00001
NM_139076.3(ABRAXAS1):c.596+9C>A rs778567938 0.00001
NM_139076.3(ABRAXAS1):c.597-4A>C rs765266353 0.00001
NM_139076.3(ABRAXAS1):c.636A>G (p.Val212=) rs1035858335 0.00001
NM_139076.3(ABRAXAS1):c.765G>A (p.Glu255=) rs878855208 0.00001
NM_139076.3(ABRAXAS1):c.780A>G (p.Ala260=) rs1198547223 0.00001
NM_139076.3(ABRAXAS1):c.796+13C>T rs770303098 0.00001
NM_139076.3(ABRAXAS1):c.797-20T>G rs1183666399 0.00001
NM_139076.3(ABRAXAS1):c.909T>C (p.Asn303=) rs1342745839 0.00001
NM_139076.3(ABRAXAS1):c.957A>G (p.Val319=) rs746068286 0.00001
NM_139076.3(ABRAXAS1):c.102T>C (p.Leu34=)
NM_139076.3(ABRAXAS1):c.1042G>T (p.Ala348Ser) rs12642536
NM_139076.3(ABRAXAS1):c.1051T>C (p.Leu351=) rs1578122288
NM_139076.3(ABRAXAS1):c.1056T>C (p.Asp352=)
NM_139076.3(ABRAXAS1):c.1074G>A (p.Lys358=)
NM_139076.3(ABRAXAS1):c.1089A>G (p.Leu363=)
NM_139076.3(ABRAXAS1):c.1095A>G (p.Thr365=) rs748650098
NM_139076.3(ABRAXAS1):c.1101C>T (p.Asp367=) rs779168599
NM_139076.3(ABRAXAS1):c.111A>G (p.Val37=) rs1308142665
NM_139076.3(ABRAXAS1):c.1125T>C (p.Gly375=)
NM_139076.3(ABRAXAS1):c.1131T>C (p.Ser377=)
NM_139076.3(ABRAXAS1):c.1170A>G (p.Thr390=) rs776562122
NM_139076.3(ABRAXAS1):c.1194G>A (p.Lys398=) rs1318264580
NM_139076.3(ABRAXAS1):c.1206A>G (p.Glu402=) rs1553936008
NM_139076.3(ABRAXAS1):c.132C>T (p.Ser44=)
NM_139076.3(ABRAXAS1):c.141T>C (p.Asp47=) rs1723020430
NM_139076.3(ABRAXAS1):c.178+17T>C
NM_139076.3(ABRAXAS1):c.178+18C>T
NM_139076.3(ABRAXAS1):c.179-14T>C
NM_139076.3(ABRAXAS1):c.189A>G (p.Lys63=)
NM_139076.3(ABRAXAS1):c.192T>C (p.Tyr64=)
NM_139076.3(ABRAXAS1):c.198A>T (p.Pro66=)
NM_139076.3(ABRAXAS1):c.215+11G>A
NM_139076.3(ABRAXAS1):c.215+15T>C
NM_139076.3(ABRAXAS1):c.216-11G>T
NM_139076.3(ABRAXAS1):c.231A>C (p.Ser77=) rs2110041429
NM_139076.3(ABRAXAS1):c.234C>A (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.265T>C (p.Leu89=)
NM_139076.3(ABRAXAS1):c.282+8C>G
NM_139076.3(ABRAXAS1):c.283-17T>C rs778038758
NM_139076.3(ABRAXAS1):c.291A>G (p.Val97=)
NM_139076.3(ABRAXAS1):c.327C>T (p.Ile109=) rs924277966
NM_139076.3(ABRAXAS1):c.336T>C (p.Phe112=) rs1208655861
NM_139076.3(ABRAXAS1):c.339A>G (p.Arg113=) rs2110039783
NM_139076.3(ABRAXAS1):c.369G>A (p.Glu123=) rs1722531723
NM_139076.3(ABRAXAS1):c.408A>C (p.Thr136=) rs2110039706
NM_139076.3(ABRAXAS1):c.456C>T (p.Ser152=)
NM_139076.3(ABRAXAS1):c.476+15G>T rs2110039580
NM_139076.3(ABRAXAS1):c.477-12T>A
NM_139076.3(ABRAXAS1):c.477-12T>C rs2110038787
NM_139076.3(ABRAXAS1):c.477-18A>G rs776009781
NM_139076.3(ABRAXAS1):c.477-19_477-18del
NM_139076.3(ABRAXAS1):c.496T>C (p.Leu166=) rs1060504866
NM_139076.3(ABRAXAS1):c.522T>C (p.Ser174=)
NM_139076.3(ABRAXAS1):c.543T>C (p.Thr181=)
NM_139076.3(ABRAXAS1):c.555C>T (p.Ser185=) rs1578127501
NM_139076.3(ABRAXAS1):c.582A>G (p.Ala194=) rs772212241
NM_139076.3(ABRAXAS1):c.597-20G>A
NM_139076.3(ABRAXAS1):c.597-20G>T
NM_139076.3(ABRAXAS1):c.630G>A (p.Lys210=)
NM_139076.3(ABRAXAS1):c.657T>C (p.Tyr219=)
NM_139076.3(ABRAXAS1):c.678A>G (p.Leu226=)
NM_139076.3(ABRAXAS1):c.681+13A>C
NM_139076.3(ABRAXAS1):c.682-12T>C
NM_139076.3(ABRAXAS1):c.682-13C>T rs2110034103
NM_139076.3(ABRAXAS1):c.682-13_682-9del rs724159832
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=) rs1187186600
NM_139076.3(ABRAXAS1):c.717A>G (p.Ala239=) rs1060504867
NM_139076.3(ABRAXAS1):c.732A>G (p.Val244=) rs753968871
NM_139076.3(ABRAXAS1):c.768A>G (p.Lys256=)
NM_139076.3(ABRAXAS1):c.792A>C (p.Ala264=)
NM_139076.3(ABRAXAS1):c.796+12_796+14del
NM_139076.3(ABRAXAS1):c.796+20_796+21del
NM_139076.3(ABRAXAS1):c.797-11A>G
NM_139076.3(ABRAXAS1):c.797-15T>C rs201424228
NM_139076.3(ABRAXAS1):c.813A>G (p.Gln271=)
NM_139076.3(ABRAXAS1):c.837T>C (p.Phe279=) rs1578122554
NM_139076.3(ABRAXAS1):c.88-12_88-11del rs2110049367
NM_139076.3(ABRAXAS1):c.88-20T>G
NM_139076.3(ABRAXAS1):c.88-7T>C
NM_139076.3(ABRAXAS1):c.894T>C (p.Val298=) rs1560570842
NM_139076.3(ABRAXAS1):c.915T>C (p.His305=) rs587780269
NM_139076.3(ABRAXAS1):c.936C>T (p.Asn312=) rs1578122398
NM_139076.3(ABRAXAS1):c.942C>T (p.Asn314=) rs2110033173
NM_139076.3(ABRAXAS1):c.966T>C (p.Asn322=) rs2110033127
NM_139076.3(ABRAXAS1):c.972C>T (p.Thr324=)

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