ClinVar Miner

List of variants in gene ABAT studied for not provided

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Total variants: 56
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HGVS dbSNP gnomAD frequency
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.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.*2884T>C rs10261 0.00480
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.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_020686.6(ABAT):c.641T>C (p.Met214Thr) rs149271402 0.00219
NM_020686.6(ABAT):c.30G>A (p.Leu10=) rs34813662 0.00200
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val) rs150914629 0.00116
NM_020686.6(ABAT):c.366+10G>A rs61307956 0.00097
NM_020686.6(ABAT):c.267C>T (p.Asp89=) rs199666932 0.00057
NM_020686.6(ABAT):c.109G>A (p.Val37Ile) rs140119176 0.00042
NM_020686.6(ABAT):c.45G>C (p.Gln15His) rs138270964 0.00010
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln) rs187929750 0.00006
NM_020686.6(ABAT):c.190A>G (p.Ile64Val) rs756209600 0.00006
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) rs775339966 0.00003
NM_020686.6(ABAT):c.678G>A (p.Ala226=) rs112564762 0.00003
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr) rs750911984 0.00002
NM_020686.6(ABAT):c.486C>T (p.Ala162=) rs763045532 0.00002
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu) rs903906856 0.00001
NM_020686.6(ABAT):c.169-6C>T rs758166055 0.00001
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg) rs144238624 0.00001
NM_020686.6(ABAT):c.587C>T (p.Thr196Met) rs546024063 0.00001
NM_020686.6(ABAT):c.648G>A (p.Ala216=) rs767550217 0.00001
GRCh37/hg19 16p13.2(chr16:8741774-8798255)x1
GRCh37/hg19 16p13.2(chr16:8766187-8822840)x3
GRCh37/hg19 16p13.2(chr16:8772316-8836090)x3
GRCh37/hg19 16p13.2(chr16:8811986-8839954)x1
NM_020686.6(ABAT):c.1020C>T (p.Ala340=) rs1596471712
NM_020686.6(ABAT):c.110T>G (p.Val37Gly) rs373781844
NM_020686.6(ABAT):c.1149G>C (p.Leu383=) rs1596472519
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile) rs1390975236
NM_020686.6(ABAT):c.1236G>A (p.Gly412=) rs778198609
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
NM_020686.6(ABAT):c.1326C>T (p.Phe442=) rs201566019
NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) rs1057523345
NM_020686.6(ABAT):c.1417C>T (p.Arg473Cys)
NM_020686.6(ABAT):c.1453G>A (p.Ala485Thr)
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?) rs756457894
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro) rs2059320233
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) rs374113959
NM_020686.6(ABAT):c.616C>T (p.Pro206Ser) rs2142971411
NM_020686.6(ABAT):c.678G>C (p.Ala226=) rs112564762
NM_020686.6(ABAT):c.709G>A (p.Asp237Asn) rs786205496
NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)
NM_020686.6(ABAT):c.933G>C (p.Lys311Asn) rs886043117

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