ClinVar Miner

List of variants reported as benign for Rotor syndrome

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Total variants: 54
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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_019844.4(SLCO1B3):c.-90C>T rs7305323 0.65420
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_006446.5(SLCO1B1):c.*463A>G rs4149088 0.38803
NM_006446.5(SLCO1B1):c.*439T>G rs4149087 0.38797
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.*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_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe) rs34671512 0.05414
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683 0.03895
NM_019844.4(SLCO1B3):c.-180-7T>G rs76069495 0.03595
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 0.01802
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.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.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.*642G>A rs77957556 0.00684
NM_006446.5(SLCO1B1):c.*121G>C rs74064260 0.00654
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.69C>T (p.Arg23=) rs149944473 0.00438
NM_006446.5(SLCO1B1):c.*46T>G rs71581985 0.00395
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.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_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
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 0.00009
NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=) rs373432026 0.00005
NM_006446.5(SLCO1B1):c.1007C>G (p.Pro336Arg) rs72559747 0.00001
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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