ClinVar Miner

List of variants in gene ABCB4 reported as uncertain significance by GeneDx

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Total variants: 9
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HGVS dbSNP
GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3
NM_000443.3(ABCB4):c.101_102delCGinsAA (p.Thr34Lys) rs1554417370
NM_000443.3(ABCB4):c.1073C>A (p.Ala358Asp) rs1057518413
NM_000443.3(ABCB4):c.140G>A (p.Arg47Gln) rs372685632
NM_000443.3(ABCB4):c.1563A>G (p.Lys521=) rs751681894
NM_000443.3(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.3(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456
NM_000443.3(ABCB4):c.263C>G (p.Thr88Ser) rs1417236795
NM_000443.3(ABCB4):c.3838T>C (p.Ter1280Arg) rs754770911

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