ClinVar Miner

List of variants in gene ABCB4 reported by PreventionGenetics

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Total variants: 16
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HGVS dbSNP
NM_018849.3(ABCB4):c.-1G>A rs45449704
NM_018849.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_018849.3(ABCB4):c.175C>T (p.Leu59=) rs2302387
NM_018849.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_018849.3(ABCB4):c.1893+6T>C rs8187798
NM_018849.3(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_018849.3(ABCB4):c.2211+16C>T rs31668
NM_018849.3(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801
NM_018849.3(ABCB4):c.2395-19C>T rs45593648
NM_018849.3(ABCB4):c.3402C>T (p.Ala1134=) rs766402494
NM_018849.3(ABCB4):c.3508-16T>C rs31653
NM_018849.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_018849.3(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018849.3(ABCB4):c.711A>T (p.Ile237=) rs2109505
NM_018849.3(ABCB4):c.833+6G>A rs202146217

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