ClinVar Miner

List of variants in gene ABCB4 reported as benign for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1357-40A>G rs31675 0.92657
NM_000443.4(ABCB4):c.2211+16C>T rs31668 0.92183
NM_000443.4(ABCB4):c.3487-16T>C rs31653 0.91450
NM_000443.4(ABCB4):c.2394+201del rs368480654 0.78573
NM_000443.4(ABCB4):c.2211+72T>C rs31667 0.75307
NM_000443.4(ABCB4):c.3634-191T>C rs1526090 0.70722
NM_000443.4(ABCB4):c.1357-162A>G rs31676 0.67448
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_000443.4(ABCB4):c.136-152T>C rs4148813 0.30389
NM_000443.4(ABCB4):c.1006-128A>G rs4148826 0.27818
NM_000443.4(ABCB4):c.708+241A>G rs2270187 0.27087
NM_000443.4(ABCB4):c.536+218T>C rs1473154 0.27084
NM_000443.4(ABCB4):c.344+113A>G rs4148818 0.27080
NM_000443.4(ABCB4):c.833+215A>G rs1558375 0.26931
NM_000443.4(ABCB4):c.833+181A>T rs1558376 0.26926
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) rs2302387 0.23630
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) rs2109505 0.22260
NM_000443.4(ABCB4):c.709-194C>G rs4148821 0.22174
NM_000443.4(ABCB4):c.537-239T>C rs2072383 0.18982
NM_000443.4(ABCB4):c.286+248A>G rs2302385 0.18918
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000443.4(ABCB4):c.2064+55A>G rs1017054 0.15706
NM_000443.4(ABCB4):c.3634-72T>C rs45549641 0.13537
NM_000443.4(ABCB4):c.3633+200C>A rs45437295 0.13491
NM_000443.4(ABCB4):c.3279+195C>G rs45443210 0.13471
NM_000443.4(ABCB4):c.1356+130G>T rs17149606 0.11581
NM_000443.4(ABCB4):c.2682+158T>C rs4148829 0.10930
NM_000443.4(ABCB4):c.2478+40A>G rs7788404 0.10700
NM_000443.4(ABCB4):c.2479-208G>A rs35737120 0.10535
NM_000443.4(ABCB4):c.3280-295C>T rs10487804 0.05653
NM_000443.4(ABCB4):c.2683-197T>C rs17149547 0.05643
NM_000443.4(ABCB4):c.135+171A>G rs45590732 0.05000
NM_000443.4(ABCB4):c.1893+278G>A rs45518541 0.04362
NM_000443.4(ABCB4):c.2064+131A>G rs45535132 0.04357
NM_000443.4(ABCB4):c.2064+140A>G rs45572146 0.04354
NM_000443.4(ABCB4):c.287-61C>T rs45626341 0.03353
NM_000443.4(ABCB4):c.1005+206G>A rs4148823 0.02981
NM_000443.4(ABCB4):c.2924+65T>A rs17149542 0.02751
NM_000443.4(ABCB4):c.3082-119C>T rs45484901 0.02751
NM_000443.4(ABCB4):c.136-314C>T rs17149674 0.02617
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_000443.4(ABCB4):c.135+257A>G rs45512791 0.02572
NM_000443.4(ABCB4):c.135+239T>A rs45461594 0.02562
NM_000443.4(ABCB4):c.2478+265A>G rs45581440 0.02458
NM_000443.4(ABCB4):c.2925-154G>T rs31657 0.02260
NM_000443.4(ABCB4):c.3280-93_3280-91dup rs45516496 0.02085
NM_000443.4(ABCB4):c.1560+164A>C rs45568342 0.01978
NM_000443.4(ABCB4):c.1231-70A>G rs45622746 0.01975
NM_000443.4(ABCB4):c.2394+195G>T rs6978808 0.01769
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.3634-228A>C rs45613941 0.01736
NM_000443.4(ABCB4):c.2784-208T>C rs45458995 0.01694
NM_000443.4(ABCB4):c.537-160G>A rs45480293 0.01658
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000443.4(ABCB4):c.81-16A>G rs45552835 0.00746
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_000443.4(ABCB4):c.536+11T>C rs8187790 0.00315
NM_000443.4(ABCB4):c.2395-19C>T rs45593648 0.00260
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055 0.00177
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.833+6G>A rs202146217 0.00064
NM_000443.4(ABCB4):c.1231-16C>T rs56229233 0.00037
NM_000443.4(ABCB4):c.1357-17A>G rs201173706 0.00037
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) rs545534537 0.00006
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) rs546820262 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000443.4(ABCB4):c.1231-17del
NM_000443.4(ABCB4):c.1231-17dup
NM_000443.4(ABCB4):c.1231-81del rs3834727
NM_000443.4(ABCB4):c.1894-26_1894-25insACAA rs67476712
NM_000443.4(ABCB4):c.1894-60AC[14] rs10647775
NM_000443.4(ABCB4):c.1894-60AC[19] rs10647775
NM_000443.4(ABCB4):c.1894-60AC[20] rs10647775
NM_000443.4(ABCB4):c.1894-60AC[21] rs10647775
NM_000443.4(ABCB4):c.1894-60AC[22] rs10647775
NM_000443.4(ABCB4):c.2064+210del rs5885585
NM_000443.4(ABCB4):c.2065-243C>G rs45609336
NM_000443.4(ABCB4):c.2254A>C (p.Asn752His)
NM_000443.4(ABCB4):c.2317-10del
NM_000443.4(ABCB4):c.2317-192G>C rs45540936
NM_000443.4(ABCB4):c.2394+185dup rs375378290
NM_000443.4(ABCB4):c.2394+201G>T rs31665
NM_000443.4(ABCB4):c.2394+201_2394+202del rs567475396
NM_000443.4(ABCB4):c.2479-66del rs5885584
NM_000443.4(ABCB4):c.286+130T>C rs2302386
NM_000443.4(ABCB4):c.344+274A>C rs45616238
NM_000443.4(ABCB4):c.345-4del
NM_000443.4(ABCB4):c.345-4dup
NM_000443.4(ABCB4):c.3486+10dup rs8187809
NM_000443.4(ABCB4):c.81-260G>A rs4148810
NM_000443.4(ABCB4):c.81-5del
NM_000443.4(ABCB4):c.81-5dup
NM_000443.4(ABCB4):c.833+15T>G
NM_000443.4(ABCB4):c.834-66G>T rs1014283

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