List of variants reported as pathogenic for Rotor syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_006446.5(SLCO1B1):c.481+1G>T	rs77271279	0.00934
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)	rs71581941	0.00150
NM_019844.4(SLCO1B3):c.971-2A>G	rs140033394	0.00012
NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter)	rs183501729	0.00006
NM_019844.4(SLCO1B3):c.1135+1G>A	rs201833947	0.00006
NM_019844.4(SLCO1B3):c.1747+1G>A	rs373707046	0.00001
GRCh37/hg19 12p12.2-12.1(chr12:21017576-21404166)
NC_000012.11:g.21014093_21014094insLINE1
NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs)	rs78627909
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)	rs558592800
SLCO1B3, 7.2-KB DEL

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