ClinVar Miner

List of variants in gene ABRAXAS1 reported as likely benign for Hereditary cancer-predisposing syndrome

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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_139076.3(ABRAXAS1):c.1117G>A (p.Asp373Asn) rs13125836 0.04289
NM_139076.3(ABRAXAS1):c.283-108C>T rs115192589 0.02599
NM_139076.3(ABRAXAS1):c.179-2093C>G rs151220976 0.00912
NM_139076.3(ABRAXAS1):c.951C>T (p.Leu317=) rs79357787 0.00772
NM_139076.3(ABRAXAS1):c.179-1773A>G rs144453483 0.00229
NM_139076.3(ABRAXAS1):c.87+555T>A rs182947222 0.00181
NM_139076.3(ABRAXAS1):c.179-1747C>G rs191051176 0.00143
NM_139076.3(ABRAXAS1):c.283-137T>C rs188900531 0.00136
NM_139076.3(ABRAXAS1):c.897G>A (p.Met299Ile) rs140407442 0.00070
NM_139076.3(ABRAXAS1):c.283-97G>C rs149402633 0.00064
NM_139076.3(ABRAXAS1):c.179-1131T>C rs759681678 0.00057
NM_139076.3(ABRAXAS1):c.216-277T>C rs542186014 0.00041
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.1124G>A (p.Gly375Asp) rs751122263 0.00004
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=) rs769383568 0.00004
NM_139076.3(ABRAXAS1):c.315T>C (p.His105=) rs375331034 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.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.333G>A (p.Thr111=) rs751175389 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.636A>G (p.Val212=) rs1035858335 0.00001
NM_139076.3(ABRAXAS1):c.765G>A (p.Glu255=) rs878855208 0.00001
NM_139076.3(ABRAXAS1):c.777A>G (p.Gly259=) rs1293484717 0.00001
NM_139076.3(ABRAXAS1):c.780A>G (p.Ala260=) rs1198547223 0.00001
NM_139076.3(ABRAXAS1):c.909T>C (p.Asn303=) rs1342745839 0.00001
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn) rs775345294 0.00001
NM_139076.3(ABRAXAS1):c.957A>G (p.Val319=) rs746068286 0.00001
NM_139076.3(ABRAXAS1):c.985C>T (p.His329Tyr) rs1248645578 0.00001
NM_139076.3(ABRAXAS1):c.1011A>G (p.Pro337=)
NM_139076.3(ABRAXAS1):c.1011A>T (p.Pro337=)
NM_139076.3(ABRAXAS1):c.102T>C (p.Leu34=)
NM_139076.3(ABRAXAS1):c.1032T>A (p.Ile344=)
NM_139076.3(ABRAXAS1):c.1037A>G (p.His346Arg)
NM_139076.3(ABRAXAS1):c.1044C>G (p.Ala348=)
NM_139076.3(ABRAXAS1):c.1059C>T (p.Asp353=)
NM_139076.3(ABRAXAS1):c.1068A>G (p.Gln356=)
NM_139076.3(ABRAXAS1):c.1074G>A (p.Lys358=)
NM_139076.3(ABRAXAS1):c.1076G>A (p.Arg359Lys)
NM_139076.3(ABRAXAS1):c.1083G>A (p.Arg361=)
NM_139076.3(ABRAXAS1):c.1098A>G (p.Gln366=)
NM_139076.3(ABRAXAS1):c.1119T>C (p.Asp373=)
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.1164A>G (p.Pro388=)
NM_139076.3(ABRAXAS1):c.1179A>C (p.Glu393Asp)
NM_139076.3(ABRAXAS1):c.117T>G (p.Gly39=)
NM_139076.3(ABRAXAS1):c.1194G>A (p.Lys398=) rs1318264580
NM_139076.3(ABRAXAS1):c.1214G>A (p.Arg405Gln) rs200281698
NM_139076.3(ABRAXAS1):c.129C>T (p.Asn43=)
NM_139076.3(ABRAXAS1):c.132C>T (p.Ser44=)
NM_139076.3(ABRAXAS1):c.141T>C (p.Asp47=) rs1723020430
NM_139076.3(ABRAXAS1):c.186G>A (p.Gln62=)
NM_139076.3(ABRAXAS1):c.192T>C (p.Tyr64=)
NM_139076.3(ABRAXAS1):c.195T>A (p.Ile65=)
NM_139076.3(ABRAXAS1):c.198A>T (p.Pro66=)
NM_139076.3(ABRAXAS1):c.201C>T (p.Cys67=)
NM_139076.3(ABRAXAS1):c.234C>A (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.264A>C (p.Ile88=)
NM_139076.3(ABRAXAS1):c.265T>C (p.Leu89=)
NM_139076.3(ABRAXAS1):c.276C>T (p.Val92=)
NM_139076.3(ABRAXAS1):c.294T>G (p.Gly98=)
NM_139076.3(ABRAXAS1):c.300C>T (p.Tyr100=)
NM_139076.3(ABRAXAS1):c.327C>T (p.Ile109=) rs924277966
NM_139076.3(ABRAXAS1):c.333G>T (p.Thr111=)
NM_139076.3(ABRAXAS1):c.336T>C (p.Phe112=) rs1208655861
NM_139076.3(ABRAXAS1):c.342G>A (p.Glu114=)
NM_139076.3(ABRAXAS1):c.348G>A (p.Leu116=)
NM_139076.3(ABRAXAS1):c.348G>C (p.Leu116=)
NM_139076.3(ABRAXAS1):c.351T>C (p.Leu117=)
NM_139076.3(ABRAXAS1):c.366G>A (p.Gln122=)
NM_139076.3(ABRAXAS1):c.369G>A (p.Glu123=) rs1722531723
NM_139076.3(ABRAXAS1):c.375T>G (p.Phe125Leu)
NM_139076.3(ABRAXAS1):c.402A>T (p.Leu134=)
NM_139076.3(ABRAXAS1):c.403T>C (p.Leu135=)
NM_139076.3(ABRAXAS1):c.426A>G (p.Glu142=)
NM_139076.3(ABRAXAS1):c.429C>T (p.Ser143=)
NM_139076.3(ABRAXAS1):c.450A>G (p.Glu150=)
NM_139076.3(ABRAXAS1):c.456C>T (p.Ser152=)
NM_139076.3(ABRAXAS1):c.477A>G (p.Gly159=) rs1722491084
NM_139076.3(ABRAXAS1):c.492A>C (p.Val164=)
NM_139076.3(ABRAXAS1):c.531G>A (p.Leu177=)
NM_139076.3(ABRAXAS1):c.546A>G (p.Val182=)
NM_139076.3(ABRAXAS1):c.552T>C (p.Gly184=)
NM_139076.3(ABRAXAS1):c.582A>G (p.Ala194=) rs772212241
NM_139076.3(ABRAXAS1):c.588A>G (p.Gln196=)
NM_139076.3(ABRAXAS1):c.597C>T (p.Ser199=)
NM_139076.3(ABRAXAS1):c.601A>G (p.Lys201Glu)
NM_139076.3(ABRAXAS1):c.618T>C (p.Asp206=)
NM_139076.3(ABRAXAS1):c.621A>G (p.Gly207=)
NM_139076.3(ABRAXAS1):c.624C>A (p.Ser208=)
NM_139076.3(ABRAXAS1):c.633G>A (p.Glu211=)
NM_139076.3(ABRAXAS1):c.642G>A (p.Lys214=)
NM_139076.3(ABRAXAS1):c.657T>C (p.Tyr219=)
NM_139076.3(ABRAXAS1):c.660T>C (p.Ala220=)
NM_139076.3(ABRAXAS1):c.678A>G (p.Leu226=)
NM_139076.3(ABRAXAS1):c.682-13_682-9del rs724159832
NM_139076.3(ABRAXAS1):c.696A>G (p.Lys232=)
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=) rs1187186600
NM_139076.3(ABRAXAS1):c.705C>T (p.Asp235=)
NM_139076.3(ABRAXAS1):c.753A>G (p.Lys251=)
NM_139076.3(ABRAXAS1):c.774A>G (p.Arg258=)
NM_139076.3(ABRAXAS1):c.792A>C (p.Ala264=)
NM_139076.3(ABRAXAS1):c.792A>T (p.Ala264=)
NM_139076.3(ABRAXAS1):c.813A>G (p.Gln271=)
NM_139076.3(ABRAXAS1):c.831C>T (p.Asn277=)
NM_139076.3(ABRAXAS1):c.837T>C (p.Phe279=) rs1578122554
NM_139076.3(ABRAXAS1):c.840T>C (p.Leu280=)
NM_139076.3(ABRAXAS1):c.849A>G (p.Ala283=)
NM_139076.3(ABRAXAS1):c.850T>C (p.Leu284=)
NM_139076.3(ABRAXAS1):c.888A>G (p.Ser296=)
NM_139076.3(ABRAXAS1):c.891T>C (p.Cys297=)
NM_139076.3(ABRAXAS1):c.894T>C (p.Val298=) rs1560570842
NM_139076.3(ABRAXAS1):c.897G>C (p.Met299Ile)
NM_139076.3(ABRAXAS1):c.906A>G (p.Lys302=)
NM_139076.3(ABRAXAS1):c.915T>C (p.His305=) rs587780269
NM_139076.3(ABRAXAS1):c.942C>T (p.Asn314=) rs2110033173
NM_139076.3(ABRAXAS1):c.981A>G (p.Val327=)
NM_139076.3(ABRAXAS1):c.984A>G (p.Glu328=)

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