ClinVar Miner

List of variants reported as pathogenic for Dubin-Johnson syndrome

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) rs72558199 0.00053
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535 0.00010
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) rs72558200 0.00009
NM_000392.5(ABCC2):c.576+1G>A rs376398719 0.00005
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter) rs773850184 0.00004
NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs) rs766573679 0.00004
NM_000392.5(ABCC2):c.1967+2T>C rs387906396 0.00001
NM_000392.5(ABCC2):c.2439+2T>C rs200606989 0.00001
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) rs72558201 0.00001
NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg) rs72558202 0.00001
NM_000392.5(ABCC2):c.1013_1014del (p.Val338fs) rs864309675
NM_000392.5(ABCC2):c.1815+2T>A rs387906395
NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter) rs775410341
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2273_2439+1del rs2133078815
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs) rs762914474
NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs) rs1351419381
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter) rs1590192032

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