ClinVar Miner

List of variants studied for bilirubin metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
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.1833G>A (p.Gly611=) rs3764006 0.69958
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_019844.4(SLCO1B3):c.-7_-4del rs4149158 0.23343
NM_019844.4(SLCO1B3):c.-28_-11del rs527574443 0.23308
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819 0.12387
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
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_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683 0.03895
NM_006446.5(SLCO1B1):c.1248G>A (p.Val416=) rs11045859 0.02933
NM_006446.5(SLCO1B1):c.1086C>T (p.Tyr362=) rs57040246 0.01802
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_006446.5(SLCO1B1):c.1452C>T (p.Pro484=) rs74064211 0.01133
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala) rs59502379 0.01105
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_006446.5(SLCO1B1):c.728-17_728-14del rs150936610 0.00968
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_006446.5(SLCO1B1):c.1332-19G>C rs75563002 0.00862
NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) rs61736830 0.00862
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) rs61612406 0.00698
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_006446.5(SLCO1B1):c.482-11T>C rs74541382 0.00577
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) rs79382866 0.00482
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00438
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) rs115227445 0.00361
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) rs77851390 0.00265
NM_019844.4(SLCO1B3):c.275A>G (p.His92Arg) rs144099822 0.00250
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) rs57325543 0.00242
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln) rs11045853 0.00093
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
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_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe) rs61736817 0.00050
NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu) rs146780296 0.00045
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys) rs150998576 0.00034
NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly) rs76963574 0.00034
NM_019844.4(SLCO1B3):c.1309G>A (p.Gly437Ser) rs61673910 0.00031
NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=) rs148697674 0.00024
NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro) rs189943255 0.00016
NM_019844.4(SLCO1B3):c.971-2A>G rs140033394 0.00012
NM_006446.5(SLCO1B1):c.485G>A (p.Cys162Tyr) rs138374684 0.00011
NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr) rs145144129 0.00010
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_019844.4(SLCO1B3):c.560C>G (p.Pro187Arg) rs368572652 0.00008
NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter) rs183501729 0.00006
NM_019844.4(SLCO1B3):c.1135+1G>A rs201833947 0.00006
NM_006446.5(SLCO1B1):c.1739G>A (p.Arg580Gln) rs763991908 0.00003
NM_019844.4(SLCO1B3):c.1598A>G (p.Lys533Arg) rs751785190 0.00003
NM_019844.4(SLCO1B3):c.227G>T (p.Gly76Val) rs368091191 0.00003
NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=) rs374616195 0.00002
NM_006446.5(SLCO1B1):c.1015G>C (p.Val339Leu) rs758315826 0.00001
NM_006446.5(SLCO1B1):c.1564G>C (p.Gly522Arg) rs112909948 0.00001
NM_006446.5(SLCO1B1):c.1812C>T (p.Thr604=) rs779508352 0.00001
NM_006446.5(SLCO1B1):c.79T>C (p.Leu27=) rs190581845 0.00001
NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr) rs760497665 0.00001
NM_006446.5(SLCO1B1):c.-3A>G
NM_006446.5(SLCO1B1):c.1415C>T (p.Pro472Leu) rs1941210611
NM_006446.5(SLCO1B1):c.152C>T (p.Ser51Phe)
NM_006446.5(SLCO1B1):c.1905_1909del (p.Ser636fs)
NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs) rs759508960
NM_006446.5(SLCO1B1):c.225T>G (p.Ile75Met) rs1251292787
NM_006446.5(SLCO1B1):c.263G>A (p.Gly88Glu) rs2121100998
NM_019844.4(SLCO1B3):c.1200C>A (p.Phe400Leu)
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) rs146940490
NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=)
NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs) rs78627909
NM_019844.4(SLCO1B3):c.1732G>C (p.Val578Leu)
NM_019844.4(SLCO1B3):c.1843A>G (p.Ile615Val)
NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=) rs774423704
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) rs558592800
NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val)
NM_019844.4(SLCO1B3):c.481+12_481+25del rs766220111
NM_019844.4(SLCO1B3):c.481+3A>G rs199631489
NM_019844.4(SLCO1B3):c.481+7A>G
NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys)

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