ClinVar Miner

List of variants in gene SLCO1B1 reported as uncertain significance for bilirubin metabolism disease

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val) rs79135870 0.00350
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941 0.00150
NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln) rs11045853 0.00093
NM_006446.5(SLCO1B1):c.*481T>C rs71581986 0.00078
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_006446.5(SLCO1B1):c.317T>C (p.Ile106Thr) rs200227560 0.00021
NM_006446.5(SLCO1B1):c.1034C>T (p.Thr345Met) rs61760243 0.00017
NM_006446.5(SLCO1B1):c.1622A>T (p.Gln541Leu) rs71581988 0.00016
NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln) rs61760182 0.00014
NM_006446.5(SLCO1B1):c.1309G>A (p.Gly437Arg) rs142965323 0.00011
NM_006446.5(SLCO1B1):c.1322C>A (p.Thr441Asn) rs141779296 0.00011
NM_006446.5(SLCO1B1):c.1865C>T (p.Ser622Leu) rs368052440 0.00011
NM_006446.5(SLCO1B1):c.485G>A (p.Cys162Tyr) rs138374684 0.00011
NM_006446.5(SLCO1B1):c.184T>C (p.Ser62Pro) rs144164853 0.00010
NM_006446.5(SLCO1B1):c.2032C>T (p.His678Tyr) rs200995543 0.00010
NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr) rs145144129 0.00010
NM_006446.5(SLCO1B1):c.1877T>A (p.Leu626Ter) rs183624077 0.00009
NM_006446.5(SLCO1B1):c.2040C>A (p.Val680=) rs200467000 0.00008
NM_006446.5(SLCO1B1):c.66A>T (p.Arg22Ser) rs142087529 0.00008
NM_006446.5(SLCO1B1):c.703G>A (p.Val235Met) rs147421160 0.00008
NM_006446.5(SLCO1B1):c.639T>A (p.Asn213Lys) rs752897663 0.00006
NM_006446.5(SLCO1B1):c.1135+14T>G rs140270687 0.00005
NM_006446.5(SLCO1B1):c.1983T>C (p.Asn661=) rs768771124 0.00004
NM_006446.5(SLCO1B1):c.695A>C (p.Lys232Thr) rs374328647 0.00004
NM_006446.5(SLCO1B1):c.*197T>C rs886049146 0.00003
NM_006446.5(SLCO1B1):c.-62+1G>A rs753044871 0.00003
NM_006446.5(SLCO1B1):c.1327G>C (p.Asp443His) rs150573622 0.00003
NM_006446.5(SLCO1B1):c.169C>T (p.Arg57Trp) rs139257324 0.00003
NM_006446.5(SLCO1B1):c.1739G>A (p.Arg580Gln) rs763991908 0.00003
NM_006446.5(SLCO1B1):c.1976C>G (p.Ser659Ter) rs745619193 0.00003
NM_006446.5(SLCO1B1):c.1829G>A (p.Arg610His) rs769518588 0.00002
NM_006446.5(SLCO1B1):c.*126T>C rs1352089009 0.00001
NM_006446.5(SLCO1B1):c.-104A>G rs886049143 0.00001
NM_006446.5(SLCO1B1):c.-3A>C rs180888034 0.00001
NM_006446.5(SLCO1B1):c.1015G>C (p.Val339Leu) rs758315826 0.00001
NM_006446.5(SLCO1B1):c.1032G>C (p.Leu344Phe) rs960742177 0.00001
NM_006446.5(SLCO1B1):c.124A>C (p.Thr42Pro) rs780511571 0.00001
NM_006446.5(SLCO1B1):c.1465T>A (p.Cys489Ser) rs144733213 0.00001
NM_006446.5(SLCO1B1):c.1498-15T>C rs763873797 0.00001
NM_006446.5(SLCO1B1):c.1564G>C (p.Gly522Arg) rs112909948 0.00001
NM_006446.5(SLCO1B1):c.1592C>G (p.Thr531Arg) rs908931153 0.00001
NM_006446.5(SLCO1B1):c.314G>T (p.Gly105Val) rs773434165 0.00001
NM_006446.5(SLCO1B1):c.84+2T>G rs1017205455 0.00001
NM_006446.5(SLCO1B1):c.*145T>C rs1219783036
NM_006446.5(SLCO1B1):c.*427G>T rs886049147
NM_006446.5(SLCO1B1):c.-62+10A>G rs1441556482
NM_006446.5(SLCO1B1):c.1213G>A (p.Val405Ile)
NM_006446.5(SLCO1B1):c.1280T>G (p.Phe427Cys)
NM_006446.5(SLCO1B1):c.1415C>T (p.Pro472Leu) rs1941210611
NM_006446.5(SLCO1B1):c.1459G>T (p.Ala487Ser) rs886049145
NM_006446.5(SLCO1B1):c.1462G>A (p.Gly488Ser)
NM_006446.5(SLCO1B1):c.1474T>A (p.Ser492Thr)
NM_006446.5(SLCO1B1):c.1498-8C>T rs78474337
NM_006446.5(SLCO1B1):c.152C>T (p.Ser51Phe)
NM_006446.5(SLCO1B1):c.1729A>C (p.Met577Leu) rs371102023
NM_006446.5(SLCO1B1):c.1805G>T (p.Trp602Leu)
NM_006446.5(SLCO1B1):c.1848T>G (p.Tyr616Ter)
NM_006446.5(SLCO1B1):c.1905_1909del (p.Ser636fs)
NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs) rs759508960
NM_006446.5(SLCO1B1):c.1998T>A (p.Asp666Glu)
NM_006446.5(SLCO1B1):c.225T>G (p.Ile75Met) rs1251292787
NM_006446.5(SLCO1B1):c.263G>A (p.Gly88Glu) rs2121100998
NM_006446.5(SLCO1B1):c.284del (p.Lys95fs)
NM_006446.5(SLCO1B1):c.311T>A (p.Met104Lys) rs1258500103
NM_006446.5(SLCO1B1):c.359+23dup rs4149095
NM_006446.5(SLCO1B1):c.360-15G>A rs886049144
NM_006446.5(SLCO1B1):c.373A>G (p.Lys125Glu)
NM_006446.5(SLCO1B1):c.601A>G (p.Lys201Glu)
NM_006446.5(SLCO1B1):c.629-1G>A
NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)
NM_006446.5(SLCO1B1):c.786C>T (p.Phe262=) rs780914697
NM_006446.5(SLCO1B1):c.797G>T (p.Gly266Val) rs779807623
NM_006446.5(SLCO1B1):c.808A>C (p.Ile270Leu)
NM_006446.5(SLCO1B1):c.84+1G>A rs571639279
NM_006446.5(SLCO1B1):c.858A>G (p.Pro286=)
NM_006446.5(SLCO1B1):c.904A>T (p.Asn302Tyr)

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