ClinVar Miner

List of variants studied for Progressive familial intrahepatic cholestasis 2 by Natera, Inc.

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Total variants: 43
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HGVS dbSNP
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser) rs0
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs0
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552
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.1445A>G (p.Asp482Gly) rs72549402
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.156G>A (p.Arg52=) rs140587295
NM_003742.4(ABCB11):c.1639-4C>T rs780324076
NM_003742.4(ABCB11):c.1639-6A>G rs0
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys) rs756725213
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2343+1G>T rs0
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777
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.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln) rs200174512
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359
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.3556G>A (p.Glu1186Lys) rs1521808
NM_003742.4(ABCB11):c.3766-10C>T rs369104228
NM_003742.4(ABCB11):c.389+8G>A rs11568363
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.402C>T (p.Ile134=) rs11568377
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630
NM_003742.4(ABCB11):c.77-17del rs11568375
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs0
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233

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