ClinVar Miner

List of variants in gene ABCB11 studied for not specified

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Gene type:
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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_003742.4(ABCB11):c.2179-17C>A rs853772 0.45482
NM_003742.4(ABCB11):c.99-18T>C rs4148776 0.13692
NM_003742.4(ABCB11):c.909-17G>A rs7602204 0.11221
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.477+16G>A rs11568378 0.05331
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359 0.02682
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373 0.02633
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1083+18A>T rs7560402 0.02434
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616 0.01137
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.77-17del rs11568375 0.01069
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.616A>G (p.Ile206Val) rs11568357 0.00297
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.2985G>A (p.Ala995=) rs113923887 0.00086
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366 0.00086
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_003742.4(ABCB11):c.2610+18A>C rs11568374 0.00065
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_003742.4(ABCB11):c.1638+17A>T rs368613163 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013 0.00024
NM_003742.4(ABCB11):c.2449-9A>C rs376959410 0.00023
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00008
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg) rs752974260 0.00006
NM_003742.4(ABCB11):c.3618+9G>A rs367984611 0.00005
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_003742.4(ABCB11):c.801G>A (p.Thr267=) rs753433179 0.00003
NM_003742.4(ABCB11):c.76+3G>A rs1401888612 0.00002
NM_003742.4(ABCB11):c.2011+18A>G rs181357802 0.00001
NM_003742.4(ABCB11):c.3412-13C>T rs753065852 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NC_000002.11:g.(?_169779448)_(169887834_?)dup
NM_003742.4(ABCB11):c.*6T>A rs1057521457
NM_003742.4(ABCB11):c.1084-19CT[3] rs538484351
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1145C>G (p.Ala382Gly)
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1213T>C (p.Cys405Arg)
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
NM_003742.4(ABCB11):c.151-9T>C rs765860589
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.2011+8C>G rs896725376
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.2343+15G>A rs1553553549
NM_003742.4(ABCB11):c.335T>C (p.Ile112Thr)
NM_003742.4(ABCB11):c.3767C>T (p.Thr1256Met)
NM_003742.4(ABCB11):c.3834C>G (p.Ser1278=) rs1374522673
NM_003742.4(ABCB11):c.399C>T (p.Asn133=) rs537575091
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.77-8del rs746419453
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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