ClinVar Miner

List of variants in gene ABCB4 reported as uncertain significance for not specified

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met) rs142271471 0.00019
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His) rs753652201 0.00005
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) rs1037196284 0.00003
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val) rs765478923 0.00003
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln) rs763807769 0.00001
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile) rs756777858 0.00001
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met) rs753318087 0.00001
NM_000443.4(ABCB4):c.101_102delinsAA (p.Thr34Lys) rs1554417370
NM_000443.4(ABCB4):c.1073C>A (p.Ala358Asp) rs1057518413
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.212T>A (p.Leu71His)
NM_000443.4(ABCB4):c.3280-8G>T rs1808206321
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn) rs866301089
NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp) rs2116296479
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg) rs551234479

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