ClinVar Miner

List of variants reported as uncertain significance for Rotor syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012 0.00802
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
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.758G>A (p.Arg253Gln) rs11045853 0.00093
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) rs145334570 0.00052
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_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_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro) rs189943255 0.00016
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.560C>G (p.Pro187Arg) rs368572652 0.00008
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_006446.5(SLCO1B1):c.1015G>C (p.Val339Leu) rs758315826 0.00001
NM_006446.5(SLCO1B1):c.1564G>C (p.Gly522Arg) rs112909948 0.00001
NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr) rs760497665 0.00001
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.1732G>C (p.Val578Leu)
NM_019844.4(SLCO1B3):c.1843A>G (p.Ile615Val)
NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val)
NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys)

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