ClinVar Miner

List of variants in gene ABCB11 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058 0.00013
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr) rs886043807 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp) rs766285158 0.00002
NM_003742.4(ABCB11):c.76+1G>A rs1413569310 0.00002
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr) rs752043324 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val) rs1171209104 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys) rs752992432 0.00001
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
NC_000002.11:g.(?_169783656)_(169783882_?)del
NC_000002.11:g.(?_169783666)_(169783872_?)del
NC_000002.11:g.(?_169814464)_(169814648_?)del
NC_000002.11:g.(?_169842610)_(169852002_?)del
NC_000002.11:g.(?_169842610)_(169853242_?)dup
NM_003742.4(ABCB11):c.1083+2T>C rs2105996078
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs) rs2105984736
NM_003742.4(ABCB11):c.1190_1197+15del
NM_003742.4(ABCB11):c.1198-2A>C
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)
NM_003742.4(ABCB11):c.1435-1G>A
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)
NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)
NM_003742.4(ABCB11):c.150+2T>C rs1210590064
NM_003742.4(ABCB11):c.151-2A>G
NM_003742.4(ABCB11):c.1543A>G (p.Asn515Asp)
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp) rs2105959754
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.2011+1G>C
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.2449-1G>A
NM_003742.4(ABCB11):c.3056+1G>A rs1243952083
NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)
NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg) rs2105891596
NM_003742.4(ABCB11):c.319T>C (p.Cys107Arg)
NM_003742.4(ABCB11):c.3240del (p.Phe1080fs) rs1553545923
NM_003742.4(ABCB11):c.3412-1G>A rs1691365745
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro) rs1064797269
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003742.4(ABCB11):c.477+1G>A
NM_003742.4(ABCB11):c.77-2A>G
NM_003742.4(ABCB11):c.784-1G>C
NM_003742.4(ABCB11):c.907_908+9del rs2106004648
NM_003742.4(ABCB11):c.98+1G>A rs1695369774
NM_003742.4(ABCB11):c.98+5G>T rs2106055125

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