ClinVar Miner

List of variants reported as uncertain significance for benign recurrent intrahepatic cholestasis by Natera, Inc.

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213 0.00015
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512 0.00015
NM_003742.4(ABCB11):c.1198-7A>C rs752532486 0.00003
NM_003742.4(ABCB11):c.1639-4C>T rs780324076 0.00003
NM_003742.4(ABCB11):c.1639-6A>G rs751634104 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs750904445 0.00001
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs371091982 0.00001
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) rs747864916 0.00001
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675 0.00001
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240 0.00001
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) rs769192036 0.00001
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs1694321895 0.00001
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs1691356249
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs1691168576
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs1212884328

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