ClinVar Miner

List of variants reported as uncertain significance for cholestasis, progressive familial intrahepatic, 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
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.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys) rs377170187 0.00033
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_003742.4(ABCB11):c.1434+14A>G rs201816834 0.00028
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
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_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=) rs376258647 0.00014
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_003742.4(ABCB11):c.1638+6C>G rs886055067 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=) rs374701109 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003742.4(ABCB11):c.*316G>A rs560085646 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp) rs951486880 0.00004
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_003742.4(ABCB11):c.*252T>A rs886055060 0.00003
NM_003742.4(ABCB11):c.-64A>G rs1036640978 0.00003
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=) rs369132677 0.00003
NM_003742.4(ABCB11):c.1198-7A>C rs752532486 0.00003
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln) rs371656014 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_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_003742.4(ABCB11):c.-78C>T rs746730049 0.00002
NM_003742.4(ABCB11):c.1435-11A>G rs762147612 0.00002
NM_003742.4(ABCB11):c.*533C>A rs886055058 0.00001
NM_003742.4(ABCB11):c.*640G>C rs1351596156 0.00001
NM_003742.4(ABCB11):c.*670G>C rs1469256614 0.00001
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.1553A>G (p.Tyr518Cys) rs770750597 0.00001
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) rs1244153418 0.00001
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065 0.00001
NM_003742.4(ABCB11):c.2075+7T>A rs768511849 0.00001
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891 0.00001
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp) rs369865521 0.00001
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr) rs372228971 0.00001
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg) rs745557569 0.00001
NM_003742.4(ABCB11):c.2769A>G (p.Thr923=) rs947068240 0.00001
NM_003742.4(ABCB11):c.3057-12G>A rs748204442 0.00001
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe) rs773929580 0.00001
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=) rs1454008881 0.00001
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=) rs772714766 0.00001
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala) rs769192036 0.00001
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met) rs780956310 0.00001
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn) rs201693189 0.00001
NM_003742.4(ABCB11):c.681C>A (p.Thr227=) rs1401834885 0.00001
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met) rs886055069 0.00001
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg) rs1694321895 0.00001
NM_003742.4(ABCB11):c.*26A>G rs762157709
NM_003742.4(ABCB11):c.*281T>G rs3732038
NM_003742.4(ABCB11):c.*406A>G rs1213193045
NM_003742.4(ABCB11):c.*509C>T rs886055059
NM_003742.4(ABCB11):c.-57C>T rs1695860361
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1197+13C>T rs781492309
NM_003742.4(ABCB11):c.1197+2T>C rs886055068
NM_003742.4(ABCB11):c.1434+5G>A
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=) rs1693471170
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu) rs1695254190
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val) rs1692231118
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) rs2105912786
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr) rs886055064
NM_003742.4(ABCB11):c.2629G>C (p.Gly877Arg)
NM_003742.4(ABCB11):c.2800G>A (p.Glu934Lys) rs755362375
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu) rs886055063
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His) rs886055062
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser) rs1574398620
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser) rs1691360150
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val) rs1163343377
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp) rs887349193
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val) rs1691356249
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu) rs2105881962
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly) rs761200259
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala) rs1691168576
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs1212884328
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu) rs762475940
NM_003742.4(ABCB11):c.585G>A (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp) rs72551306
NM_003742.4(ABCB11):c.76+4A>G
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser) rs199605381
NM_004817.4(TJP2):c.2667+3A>G
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) rs746080083

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