ClinVar Miner

List of variants in gene ABCG8 reported as pathogenic

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022437.3(ABCG8):c.1476T>A (p.Tyr492Ter) rs370422066 0.00003
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter) rs137854891 0.00002
NM_022437.3(ABCG8):c.1444del (p.Leu482fs) rs748233241 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_022437.3(ABCG8):c.1787T>G (p.Leu596Arg) rs137852992 0.00001
NM_022437.3(ABCG8):c.64-2A>G rs934115584 0.00001
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter) rs1000291485
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) rs199553576
NM_022437.3(ABCG8):c.1256_1257delinsAA (p.Ile419Lys) rs2104947166
NM_022437.3(ABCG8):c.1288del (p.Thr430fs)
NM_022437.3(ABCG8):c.1405_1406del (p.Ser469fs)
NM_022437.3(ABCG8):c.1752G>A (p.Trp584Ter) rs754182905
NM_022437.3(ABCG8):c.1756+2T>A
NM_022437.3(ABCG8):c.1938_1939delinsT (p.Val647fs)
NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)
NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter) rs375005392
NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter)
NM_022437.3(ABCG8):c.408del (p.Gln137fs)
NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.562-1G>C
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.647del (p.Gly216fs) rs2104919976
NM_022437.3(ABCG8):c.687G>A (p.Trp229Ter) rs141909291
NM_022437.3(ABCG8):c.691C>A (p.Pro231Thr) rs137852993
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs) rs1558796310
NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter) rs762279471
NM_022437.3(ABCG8):c.904C>T (p.Gln302Ter) rs1668974150
NM_022437.3(ABCG8):c.965-1G>C rs957176669

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