ClinVar Miner

List of variants in gene ABCB11 reported as likely pathogenic for Progressive familial intrahepatic cholestasis 2

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Total variants: 6
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NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter) rs1574462504
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2343+1G>T rs0
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192

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