ClinVar Miner

List of variants reported as uncertain significance for Progressive familial intrahepatic cholestasis 2 by Natera, Inc.

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Total variants: 19
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HGVS dbSNP
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs0
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs0
NM_003742.4(ABCB11):c.1198-7A>C rs752532486
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs0
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=) rs747864916
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675
NM_003742.4(ABCB11):c.1639-4C>T rs780324076
NM_003742.4(ABCB11):c.1639-6A>G rs0
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512
NM_003742.4(ABCB11):c.3411+10G>A rs188996270
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs0
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs0
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs0
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs0

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