ClinVar Miner

List of variants in gene ABCB11 reported as likely benign for not specified

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
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.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.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.1062T>C (p.Tyr354=) rs376258647 0.00014
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.3618+9G>A rs367984611 0.00005
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
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.151-9T>C rs765860589
NM_003742.4(ABCB11):c.2011+8C>G rs896725376
NM_003742.4(ABCB11):c.2343+15G>A rs1553553549
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.77-8del rs746419453

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