ClinVar Miner

List of variants in gene ABCC2 reported as likely pathogenic for bilirubin metabolism disease

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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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.1177C>T (p.Arg393Trp) rs777902199 0.00003
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000392.5(ABCC2):c.1998dup (p.Val667fs)
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.333+1G>A
NM_000392.5(ABCC2):c.3614+1G>C rs2133124899
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer) rs2132976682

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