ClinVar Miner

List of variants reported as likely benign for Rotor syndrome

Included ClinVar conditions (1):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_006446.5(SLCO1B1):c.*575G>A rs61760249 0.01303
NM_006446.5(SLCO1B1):c.1463G>C (p.Gly488Ala) rs59502379 0.01105
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.1495A>G (p.Ile499Val) rs74064213 0.00823
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_006446.5(SLCO1B1):c.1747+9A>G rs71577817 0.00741
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_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_019844.4(SLCO1B3):c.1614T>C (p.Val538=) rs77851390 0.00265
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) rs143827641 0.00051
NM_019844.4(SLCO1B3):c.727+7A>G rs376199890 0.00046
NM_006446.5(SLCO1B1):c.*328A>G rs4149086 0.00042
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=) rs148697674 0.00024
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_006446.5(SLCO1B1):c.1794G>A (p.Thr598=) rs201556175 0.00003
NM_006446.5(SLCO1B1):c.633A>G (p.Ile211Met) rs201722521 0.00003
NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=) rs374616195 0.00002
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_006446.5(SLCO1B1):c.*134A>T rs567678480
NM_006446.5(SLCO1B1):c.-3A>G
NM_019844.4(SLCO1B3):c.-128del rs373018826
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) rs146940490
NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=)
NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=) rs774423704
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

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