ClinVar Miner

List of variants reported as benign for bilirubin metabolism disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_000463.3(UGT1A1):c.*339G>C rs1042640 0.81209
NM_000463.3(UGT1A1):c.*211T>C rs10929303 0.73663
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_000463.3(UGT1A1):c.*440G>C rs8330 0.72111
NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) rs7311358 0.71410
NM_019844.4(SLCO1B3):c.360-3C>T rs3764009 0.71397
NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=) rs2053098 0.71374
NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) rs4149117 0.70446
NM_019844.4(SLCO1B3):c.-90C>T rs7305323 0.65420
NM_003742.4(ABCB11):c.*236A>G rs473351 0.61693
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
NM_018668.5(VPS33B):c.-325T>C rs11073967 0.57234
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NM_003742.4(ABCB11):c.*368G>A rs495714 0.47735
NM_003742.4(ABCB11):c.*420A>G rs496550 0.47337
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692 0.46166
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) rs1202283 0.41352
NM_006446.5(SLCO1B1):c.*463A>G rs4149088 0.38803
NM_006446.5(SLCO1B1):c.*439T>G rs4149087 0.38797
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.*1509A>G rs1968274 0.25162
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_001374385.1(ATP8B1):c.*1254T>C rs17685852 0.20609
NM_001374385.1(ATP8B1):c.*1937T>A rs1129621 0.20604
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18388
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819 0.12387
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_006446.5(SLCO1B1):c.*449A>C rs11045891 0.11312
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.11112
NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) rs60140950 0.10532
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_001374385.1(ATP8B1):c.*1723G>A rs11543269 0.09080
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08637
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=) rs16945153 0.05737
NM_000392.5(ABCC2):c.4146+11G>C rs17216282 0.05624
NM_000392.5(ABCC2):c.4508+12G>A rs17216212 0.05622
NM_000392.5(ABCC2):c.4290G>T (p.Val1430=) rs1137968 0.05618
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) rs17222723 0.05531
NM_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
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_032830.3(UTP4):c.714C>T (p.Asp238=) rs2288036 0.04782
NM_000392.5(ABCC2):c.4488C>T (p.His1496=) rs8187707 0.04774
NM_000392.5(ABCC2):c.2883+11C>T rs41318031 0.04549
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683 0.03895
NM_019844.4(SLCO1B3):c.-180-7T>G rs76069495 0.03595
NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=) rs8187706 0.03502
NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=) rs7899457 0.03237
NM_032830.3(UTP4):c.1906C>T (p.Arg636Cys) rs61185783 0.03200
NM_006446.5(SLCO1B1):c.1248G>A (p.Val416=) rs11045859 0.02933
NM_018668.5(VPS33B):c.609A>G (p.Ala203=) rs76867988 0.02746
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_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_018668.5(VPS33B):c.648C>T (p.Gly216=) rs59648701 0.01941
NM_032830.3(UTP4):c.*68A>G rs74886619 0.01911
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01910
NM_006446.5(SLCO1B1):c.*167T>C rs4149085 0.01882
NM_006446.5(SLCO1B1):c.1086C>T (p.Tyr362=) rs57040246 0.01802
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) rs2230027 0.01640
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552 0.01590
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) rs17222617 0.01435
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_000443.4(ABCB4):c.-6-4T>C rs8187785 0.01231
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616 0.01137
NM_006446.5(SLCO1B1):c.1452C>T (p.Pro484=) rs74064211 0.01133
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) rs8187802 0.01001
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00974
NM_006446.5(SLCO1B1):c.882G>A (p.Leu294=) rs11045854 0.00971
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00971
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.00969
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000392.5(ABCC2):c.1219C>T (p.Leu407=) rs17216198 0.00876
NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) rs61736830 0.00862
NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser) rs41318029 0.00860
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=) rs148071246 0.00686
NM_019844.4(SLCO1B3):c.*642G>A rs77957556 0.00684
NM_001374385.1(ATP8B1):c.*888C>G rs149436273 0.00683
NM_032830.3(UTP4):c.1257T>C (p.Asn419=) rs149792921 0.00658
NM_006446.5(SLCO1B1):c.*121G>C rs74064260 0.00654
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_032830.3(UTP4):c.1313G>A (p.Arg438His) rs8056684 0.00522
NM_032830.3(UTP4):c.270G>A (p.Ala90=) rs16958656 0.00501
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933 0.00490
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00451
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00438
NM_001374385.1(ATP8B1):c.*1940A>G rs117693241 0.00436
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_018668.5(VPS33B):c.-271A>C rs116461458 0.00418
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=) rs147407982 0.00416
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793 0.00401
NM_006446.5(SLCO1B1):c.*46T>G rs71581985 0.00395
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) rs115227445 0.00361
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00355
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_000392.5(ABCC2):c.*201C>T rs150176505 0.00327
NM_000392.5(ABCC2):c.3396T>C (p.Ile1132=) rs17216345 0.00324
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00269
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_000443.4(ABCB4):c.-1G>A rs45449704 0.00181
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_019844.3(SLCO1B3):c.-241G>A rs59312184 0.00136
NM_019844.4(SLCO1B3):c.*548A>T rs117703648 0.00136
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_018668.5(VPS33B):c.-7C>G rs2289617 0.00117
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys) rs111482608 0.00107
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
NM_000392.5(ABCC2):c.2934G>A (p.Ser978=) rs3740070 0.00080
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_032830.3(UTP4):c.1788C>T (p.Ile596=) rs75998507 0.00051
NM_000392.5(ABCC2):c.2095-6A>G rs202210861 0.00049
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) rs144848376 0.00039
NM_000392.5(ABCC2):c.-23G>A rs17216156 0.00038
NM_006446.5(SLCO1B1):c.*40C>G rs79775553 0.00038
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_006446.5(SLCO1B1):c.1498-12A>G rs80208935 0.00028
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00010
NM_001374385.1(ATP8B1):c.2498G>A (p.Arg833Gln) rs568134011 0.00010
NM_006446.5(SLCO1B1):c.452A>G (p.Asn151Ser) rs2306282 0.00009
NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=) rs373432026 0.00005
NM_000392.5(ABCC2):c.4568A>C (p.Gln1523Pro) rs533470370 0.00002
NM_000463.3(UGT1A1):c.*419T>C rs34942353 0.00002
NM_000392.5(ABCC2):c.1815+4G>A rs574319283 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_003742.4(ABCB11):c.-97T>C rs568098536 0.00001
NM_006446.5(SLCO1B1):c.1007C>G (p.Pro336Arg) rs72559747 0.00001
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_001374385.1(ATP8B1):c.*2015del rs35833803
NM_001374385.1(ATP8B1):c.*587G>A rs317822
NM_001374385.1(ATP8B1):c.*900G>T rs4940950
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_019844.4(SLCO1B3):c.*355dup rs397689574
NM_019844.4(SLCO1B3):c.*627G>A rs79132805

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