ClinVar Miner

List of variants in gene ABCG8 reported as likely pathogenic

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Gene type:
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Total variants: 19
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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.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022437.3(ABCG8):c.1411+1G>T rs774129955 0.00004
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter) rs371646728 0.00001
NC_000002.11:g.(?_44100916)_(44105062_?)del
NM_022437.3(ABCG8):c.1412-2A>G rs2104947953
NM_022437.3(ABCG8):c.1488+2T>G
NM_022437.3(ABCG8):c.1709_1711del (p.Phe570del)
NM_022437.3(ABCG8):c.1757-2A>G
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022437.3(ABCG8):c.295C>T (p.Gln99Ter)
NM_022437.3(ABCG8):c.562-1G>A rs1317214046
NM_022437.3(ABCG8):c.641del (p.Ser214fs)
NM_022437.3(ABCG8):c.751del (p.Leu251fs) rs763568449
NM_022437.3(ABCG8):c.964+1G>T
NM_022437.3(ABCG8):c.965-1G>A rs957176669
NM_022437.3(ABCG8):c.965-1G>C rs957176669

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