ClinVar Miner

List of variants reported as benign for hereditary hyperbilirubinemia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.208-89C>T rs2756108 0.99937
NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe) rs927344 0.99331
NM_000463.3(UGT1A1):c.*339G>C rs1042640 0.80790
NM_019844.4(SLCO1B3):c.727+2087T>C rs2417940 0.75868
NM_000463.3(UGT1A1):c.*211T>C rs10929303 0.74307
NM_000463.3(UGT1A1):c.*440G>C rs8330 0.72835
NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) rs7311358 0.72301
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_019844.4(SLCO1B3):c.-90C>T rs7305323 0.66096
NM_000392.5(ABCC2):c.3258+56T>C rs4148396 0.65178
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283 0.53370
NC_000012.12:g.20921188C>T rs2117032 0.47814
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.43870
NM_006446.5(SLCO1B1):c.*463A>G rs4149088 0.39320
NM_006446.5(SLCO1B1):c.*439T>G rs4149087 0.39313
NM_000463.3(UGT1A1):c.864+2925T>G rs4148324 0.36024
NM_000463.3(UGT1A1):c.864+2842G>T rs6742078 0.35598
NM_019844.4(SLCO1B3):c.-7_-4del rs4149158 0.23302
NM_019844.4(SLCO1B3):c.-28_-11del rs527574443 0.23277
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) rs2273697 0.18604
NM_000392.5(ABCC2):c.-24C>T rs717620 0.15338
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.*449A>C rs11045891 0.11312
NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=) rs11045818 0.10656
NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) rs60140950 0.10372
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) rs8187710 0.08285
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_000392.5(ABCC2):c.4488C>T (p.His1496=) rs8187707 0.04774
NM_000392.5(ABCC2):c.2883+11C>T rs41318031 0.04424
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683 0.03895
NM_019844.4(SLCO1B3):c.-180-7T>G rs76069495 0.03701
NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=) rs8187706 0.03502
NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=) rs7899457 0.03003
NM_006446.5(SLCO1B1):c.1248G>A (p.Val416=) rs11045859 0.02933
NM_006446.5(SLCO1B1):c.*167T>C rs4149085 0.01882
NM_006446.5(SLCO1B1):c.1086C>T (p.Tyr362=) rs57040246 0.01674
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) rs17222617 0.01415
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) rs113646094 0.01182
NM_006446.5(SLCO1B1):c.1452C>T (p.Pro484=) rs74064211 0.01133
NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val) rs11045852 0.01024
NM_006446.5(SLCO1B1):c.882G>A (p.Leu294=) rs11045854 0.00971
NM_006446.5(SLCO1B1):c.728-17_728-14del rs150936610 0.00968
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) rs57585902 0.00904
NM_006446.5(SLCO1B1):c.1332-19G>C rs75563002 0.00862
NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser) rs41318029 0.00842
NM_006446.5(SLCO1B1):c.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) rs61736830 0.00815
NM_000392.5(ABCC2):c.1219C>T (p.Leu407=) rs17216198 0.00808
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) rs61612406 0.00680
NM_019844.4(SLCO1B3):c.*642G>A rs77957556 0.00653
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) rs79042365 0.00606
NM_006446.5(SLCO1B1):c.*121G>C rs74064260 0.00605
NM_006446.5(SLCO1B1):c.482-11T>C rs74541382 0.00539
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) rs79382866 0.00482
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) rs28900406 0.00423
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) rs149944473 0.00400
NM_006446.5(SLCO1B1):c.*46T>G rs71581985 0.00395
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) rs17222561 0.00363
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_000392.5(ABCC2):c.3396T>C (p.Ile1132=) rs17216345 0.00324
NM_000392.5(ABCC2):c.*201C>T rs150176505 0.00313
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) rs8187709 0.00257
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) rs146623116 0.00184
NM_019844.3(SLCO1B3):c.-241G>A rs59312184 0.00136
NM_019844.4(SLCO1B3):c.*548A>T rs117703648 0.00136
NM_000392.5(ABCC2):c.2934G>A (p.Ser978=) rs3740070 0.00125
NM_000463.3(UGT1A1):c.996+15T>C rs4148327 0.00099
NM_000392.5(ABCC2):c.2095-6A>G rs202210861 0.00093
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00072
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749 0.00054
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_000392.5(ABCC2):c.-23G>A rs17216156 0.00038
NM_006446.5(SLCO1B1):c.*40C>G rs79775553 0.00038
NM_006446.5(SLCO1B1):c.1498-12A>G rs80208935 0.00028
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_006446.5(SLCO1B1):c.452A>G (p.Asn151Ser) rs2306282 0.00020
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00017
NM_000463.3(UGT1A1):c.*419T>C rs34942353 0.00009
NM_006446.5(SLCO1B1):c.1007C>G (p.Pro336Arg) rs72559747 0.00007
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_000392.5(ABCC2):c.1815+4G>A rs574319283 0.00001
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) rs3740066
NM_006446.5(SLCO1B1):c.727+33C>T rs2291076
NM_019844.4(SLCO1B3):c.*355dup rs397689574
NM_019844.4(SLCO1B3):c.*627G>A rs79132805

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