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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

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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