ClinVar Miner

List of variants in gene ATP8B1 reported as uncertain significance for cholestasis

Included ClinVar conditions (33):
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.-51C>T rs150844949 0.00431
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.*734A>T rs528645513 0.00206
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001374385.1(ATP8B1):c.*503G>T rs187993447 0.00079
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His) rs147642236 0.00063
NM_001374385.1(ATP8B1):c.*735T>A rs561633356 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001374385.1(ATP8B1):c.555-3T>C rs367948617 0.00032
NM_001374385.1(ATP8B1):c.*968T>A rs886054002 0.00029
NM_001374385.1(ATP8B1):c.*1945C>T rs779489096 0.00025
NM_001374385.1(ATP8B1):c.*296C>T rs553050447 0.00024
NM_001374385.1(ATP8B1):c.*242T>C rs757204179 0.00016
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr) rs202100663 0.00016
NM_001374385.1(ATP8B1):c.*1083T>C rs138676107 0.00014
NM_001374385.1(ATP8B1):c.*340C>T rs533724646 0.00014
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr) rs199514707 0.00013
NM_001374385.1(ATP8B1):c.*1676G>A rs932274962 0.00012
NM_001374385.1(ATP8B1):c.*426G>A rs192231911 0.00011
NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile) rs201392345 0.00010
NM_001374385.1(ATP8B1):c.*1133A>G rs997437548 0.00009
NM_001374385.1(ATP8B1):c.*676G>A rs959189849 0.00009
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val) rs369553314 0.00007
NM_001374385.1(ATP8B1):c.2988C>T (p.Pro996=) rs776385207 0.00006
NM_001374385.1(ATP8B1):c.310G>A (p.Ala104Thr) rs756439394 0.00006
NM_001374385.1(ATP8B1):c.*1524T>C rs886054000 0.00005
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr) rs372806297 0.00005
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr) rs146405857 0.00005
NM_001374385.1(ATP8B1):c.*776G>A rs886054003 0.00004
NM_001374385.1(ATP8B1):c.*799G>A rs376678355 0.00004
NM_001374385.1(ATP8B1):c.1101C>A (p.Gly367=) rs35969033 0.00004
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser) rs755385749 0.00004
NM_001374385.1(ATP8B1):c.14G>A (p.Arg5Lys) rs960179853 0.00004
NM_001374385.1(ATP8B1):c.164G>A (p.Arg55Gln) rs768114205 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.207C>T (p.Asn69=) rs201150730 0.00004
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 0.00004
NM_001374385.1(ATP8B1):c.3401-13A>G rs747437391 0.00004
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met) rs369011228 0.00004
NM_001374385.1(ATP8B1):c.*1095A>T rs886054001 0.00003
NM_001374385.1(ATP8B1):c.*132C>G rs745786597 0.00003
NM_001374385.1(ATP8B1):c.*531C>T rs758654293 0.00003
NM_001374385.1(ATP8B1):c.-65C>T rs886054016 0.00003
NM_001374385.1(ATP8B1):c.1156T>G (p.Phe386Val) rs767126171 0.00003
NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=) rs370484798 0.00003
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00003
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile) rs200648620 0.00003
NM_001374385.1(ATP8B1):c.2939A>G (p.Tyr980Cys) rs886054010 0.00003
NM_001374385.1(ATP8B1):c.3481G>A (p.Val1161Ile) rs771155047 0.00003
NM_001374385.1(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569 0.00003
NM_001374385.1(ATP8B1):c.*1403G>A rs1277260486 0.00002
NM_001374385.1(ATP8B1):c.*1629T>C rs367994135 0.00002
NM_001374385.1(ATP8B1):c.*1851G>C rs1425339940 0.00002
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374385.1(ATP8B1):c.3669C>T (p.Ser1223=) rs375842507 0.00002
NM_001374385.1(ATP8B1):c.854G>T (p.Ser285Ile) rs754073606 0.00002
NM_001374385.1(ATP8B1):c.*1546A>C rs1383423114 0.00001
NM_001374385.1(ATP8B1):c.*506G>A rs1054288138 0.00001
NM_001374385.1(ATP8B1):c.*899C>T rs887562438 0.00001
NM_001374385.1(ATP8B1):c.-35C>A rs886054015 0.00001
NM_001374385.1(ATP8B1):c.1206C>T (p.Ile402=) rs1179570288 0.00001
NM_001374385.1(ATP8B1):c.1278C>T (p.Tyr426=) rs780518569 0.00001
NM_001374385.1(ATP8B1):c.1429+14G>A rs886054012 0.00001
NM_001374385.1(ATP8B1):c.1819+10C>T rs767885426 0.00001
NM_001374385.1(ATP8B1):c.1933-12T>A rs758782679 0.00001
NM_001374385.1(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790 0.00001
NM_001374385.1(ATP8B1):c.2322T>A (p.Asn774Lys) rs757090822 0.00001
NM_001374385.1(ATP8B1):c.2600G>A (p.Arg867His) rs745546266 0.00001
NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=) rs199716374 0.00001
NM_001374385.1(ATP8B1):c.2763G>A (p.Ser921=) rs758180192 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2968G>A (p.Val990Met) rs747325752 0.00001
NM_001374385.1(ATP8B1):c.3318C>T (p.Ser1106=) rs140005450 0.00001
NM_001374385.1(ATP8B1):c.340G>C (p.Glu114Gln) rs753142591 0.00001
NM_001374385.1(ATP8B1):c.3654G>A (p.Ala1218=) rs778786114 0.00001
NM_001374385.1(ATP8B1):c.3673C>A (p.Arg1225Ser) rs774849132 0.00001
NM_001374385.1(ATP8B1):c.394-7C>T rs370252509 0.00001
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn) rs372749108 0.00001
NM_001374385.1(ATP8B1):c.*102G>T rs886054008
NM_001374385.1(ATP8B1):c.*1243T>C rs571338678
NM_001374385.1(ATP8B1):c.*1333T>G rs1909226700
NM_001374385.1(ATP8B1):c.*1796G>A rs747148347
NM_001374385.1(ATP8B1):c.*1833G>A rs574070627
NM_001374385.1(ATP8B1):c.*212T>C rs886054007
NM_001374385.1(ATP8B1):c.*261G>C rs1909307752
NM_001374385.1(ATP8B1):c.*292C>A rs1599059993
NM_001374385.1(ATP8B1):c.*440C>T rs867751351
NM_001374385.1(ATP8B1):c.*467G>A rs1909290314
NM_001374385.1(ATP8B1):c.*646G>C rs886054006
NM_001374385.1(ATP8B1):c.*649C>A rs1288737685
NM_001374385.1(ATP8B1):c.*651T>C rs886054005
NM_001374385.1(ATP8B1):c.*694T>C rs886054004
NM_001374385.1(ATP8B1):c.*727A>C rs776278990
NM_001374385.1(ATP8B1):c.*735T>G rs561633356
NM_001374385.1(ATP8B1):c.*741A>G rs970265600
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile) rs1484507624
NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)
NM_001374385.1(ATP8B1):c.1473+2T>C rs1568195257
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu) rs886054011
NM_001374385.1(ATP8B1):c.2098-7_2098delinsTTTTTAGT rs1568187066
NM_001374385.1(ATP8B1):c.2164G>C (p.Ala722Pro)
NM_001374385.1(ATP8B1):c.2208G>A (p.Lys736=) rs764984556
NM_001374385.1(ATP8B1):c.222C>A (p.His74Gln) rs145214384
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn) rs1599090593
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=) rs886054009
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro) rs1909527634
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.494C>G (p.Ala165Gly) rs886054014
NM_001374385.1(ATP8B1):c.501T>A (p.His167Gln) rs780703474
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met) rs1449849281
NM_001374385.1(ATP8B1):c.782-5A>T rs886054013

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