ClinVar Miner

List of variants in gene ABCB11 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00066
NM_003742.4(ABCB11):c.2610+18A>C rs11568374 0.00065
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=) rs369538863 0.00024
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.3170G>A (p.Arg1057Gln) rs200174512 0.00015
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_003742.4(ABCB11):c.2343+10C>G rs200824270 0.00013
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
NM_003742.4(ABCB11):c.2520G>T (p.Leu840=) rs369231927 0.00009
NM_003742.4(ABCB11):c.3849G>A (p.Ala1283=) rs566857672 0.00009
NM_003742.4(ABCB11):c.2193T>G (p.Pro731=) rs371893470 0.00007
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.1092C>T (p.Leu364=) rs373048820 0.00005
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.435T>C (p.Tyr145=) rs766402285 0.00004
NM_003742.4(ABCB11):c.1029C>T (p.Tyr343=) rs751446926 0.00003
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677 0.00003
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.1905G>A (p.Val635=) rs774534615 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.2479C>T (p.Leu827=) rs777104186 0.00002
NM_003742.4(ABCB11):c.450C>T (p.Val150=) rs376327318 0.00002
NM_003742.4(ABCB11):c.1098C>T (p.Val366=) rs565224768 0.00001
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) rs747864916 0.00001
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1887T>C (p.Phe629=) rs1259342035
NM_003742.4(ABCB11):c.3056+3G>A
NM_003742.4(ABCB11):c.3594T>C (p.His1198=)
NM_003742.4(ABCB11):c.3669G>A (p.Glu1223=) rs199649780
NM_003742.4(ABCB11):c.389+4G>A
NM_003742.4(ABCB11):c.42A>G (p.Gly14=)
NM_003742.4(ABCB11):c.603A>G (p.Arg201=)
NM_003742.4(ABCB11):c.678G>T (p.Ser226=)
NM_003742.4(ABCB11):c.77-22C>T
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617

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