ClinVar Miner

List of variants in gene ABAT reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020686.6(ABAT):c.448-15T>A rs2302608 0.86261
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg) rs1731017 0.53047
NM_020686.6(ABAT):c.169-5T>C rs1641010 0.49394
NM_020686.6(ABAT):c.1381+9T>C rs1079348 0.33159
NM_020686.6(ABAT):c.984C>A (p.Val328=) rs1641022 0.32625
NM_020686.6(ABAT):c.309C>T (p.Val103=) rs2229157 0.09544
NM_020686.6(ABAT):c.1270-4A>G rs12447235 0.07354
NM_020686.6(ABAT):c.129G>A (p.Gly43=) rs2228081 0.03085
NM_020686.6(ABAT):c.1147C>T (p.Leu383=) rs2229158 0.02911
NM_020686.6(ABAT):c.168+12A>G rs75151311 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_020686.6(ABAT):c.954+16C>T rs41311266 0.00550
NM_020686.6(ABAT):c.1452C>T (p.His484=) rs61730647 0.00407
NM_020686.6(ABAT):c.816+7C>A rs376046736 0.00332
NM_020686.6(ABAT):c.817-6A>G rs140106845 0.00319
NM_020686.6(ABAT):c.366+11G>T rs141893184 0.00318
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.366+10G>A rs61307956 0.00097
NM_020686.6(ABAT):c.448-20G>A rs200644195 0.00065
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.684G>A (p.Thr228=) rs148143485 0.00030
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=) rs372283568 0.00005
NM_020686.6(ABAT):c.816+18C>T rs770606061 0.00004
NM_020686.6(ABAT):c.540+14CA[10] rs35745596
NM_020686.6(ABAT):c.540+14CA[12] rs35745596
NM_020686.6(ABAT):c.540+14CA[13] rs35745596
NM_020686.6(ABAT):c.70+9del
NM_020686.6(ABAT):c.70+9dup

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