ClinVar Miner

List of variants in gene ABCC2 reported as likely pathogenic for not provided

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000392.5(ABCC2):c.1967+1G>A rs146405172 0.00078
NM_000392.5(ABCC2):c.3258+1G>A rs762243203 0.00017
NM_000392.5(ABCC2):c.576+1G>A rs376398719 0.00005
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.3104-1G>A rs1054194575 0.00001
NC_000010.10:g.(?_101594137)_(101596047_?)dup
NM_000392.5(ABCC2):c.1032-2A>G
NM_000392.5(ABCC2):c.1531-2A>G
NM_000392.5(ABCC2):c.1901-1_1903del
NM_000392.5(ABCC2):c.1968-1G>A
NM_000392.5(ABCC2):c.1968-1G>C rs756707816
NM_000392.5(ABCC2):c.2078G>A (p.Gly693Glu)
NM_000392.5(ABCC2):c.2095-1G>A
NM_000392.5(ABCC2):c.2271+2T>C
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2620+2T>C
NM_000392.5(ABCC2):c.2884-2A>G
NM_000392.5(ABCC2):c.3258+1del
NM_000392.5(ABCC2):c.3258+2T>G
NM_000392.5(ABCC2):c.33+2T>C
NM_000392.5(ABCC2):c.333+1G>A
NM_000392.5(ABCC2):c.334-2A>G
NM_000392.5(ABCC2):c.3415-1G>A
NM_000392.5(ABCC2):c.3614+1G>A
NM_000392.5(ABCC2):c.3741+1G>A rs34937870
NM_000392.5(ABCC2):c.3741+1G>T rs34937870
NM_000392.5(ABCC2):c.3987+1G>C
NM_000392.5(ABCC2):c.4147-2A>G
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000392.5(ABCC2):c.469-1G>A
NM_000392.5(ABCC2):c.469-1G>T
NM_000392.5(ABCC2):c.469-2A>G
NM_000392.5(ABCC2):c.632+2_632+5del

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