ClinVar Miner

List of variants in gene ATP8B1 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_001374385.1(ATP8B1):c.-106C>T rs1848701 0.38084
NM_001374385.1(ATP8B1):c.*1509A>G rs1968274 0.25162
NM_001374385.1(ATP8B1):c.*1254T>C rs17685852 0.20609
NM_001374385.1(ATP8B1):c.*1937T>A rs1129621 0.20604
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_001374385.1(ATP8B1):c.*1723G>A rs11543269 0.09080
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374385.1(ATP8B1):c.*283G>A rs11152024 0.07759
NM_001374385.1(ATP8B1):c.3016-9C>A rs34729241 0.01910
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_001374385.1(ATP8B1):c.*11C>T rs34255016 0.00974
NM_001374385.1(ATP8B1):c.*888C>G rs149436273 0.00683
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_001374385.1(ATP8B1):c.2664G>T (p.Thr888=) rs35757087 0.00529
NM_001374385.1(ATP8B1):c.2789G>A (p.Arg930Gln) rs35623014 0.00451
NM_001374385.1(ATP8B1):c.-25-6T>C rs35671095 0.00443
NM_001374385.1(ATP8B1):c.*1940A>G rs117693241 0.00436
NM_001374385.1(ATP8B1):c.-51C>T rs150844949 0.00431
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001374385.1(ATP8B1):c.*827T>A rs182819607 0.00356
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) rs34018300 0.00328
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.3016-19A>G rs139202277 0.00210
NM_001374385.1(ATP8B1):c.*734A>T rs528645513 0.00206
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_001374385.1(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648 0.00137
NM_001374385.1(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771 0.00137
NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078 0.00135
NM_001374385.1(ATP8B1):c.234C>G (p.His78Gln) rs3745079 0.00124
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001374385.1(ATP8B1):c.2931+14G>A rs34451179 0.00101
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.2498G>A (p.Arg833Gln) rs568134011 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.1982T>C (p.Ile661Thr) rs121909100 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.923G>T (p.Gly308Val) rs111033609 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.2286-2A>G rs377132123 0.00005
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr) rs146405857 0.00005
NM_001374385.1(ATP8B1):c.*1553T>G rs559805305 0.00004
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.2821C>T (p.Arg941Ter) rs374340059 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.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105 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.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.213dup (p.Lys72fs) rs1913405478 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.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer) rs752757689 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495 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.625C>A (p.Pro209Thr) rs515726138 0.00001
NM_001374385.1(ATP8B1):c.863T>C (p.Leu288Ser) rs121909099 0.00001
NM_001374385.1(ATP8B1):c.910G>A (p.Asp304Asn) rs372749108 0.00001
NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
NC_000018.9:g.(?_55313657)_(55321308_55322425)del
NC_000018.9:g.55335906_55346620dup
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.*2015del rs35833803
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.*587G>A rs317822
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.*900G>A rs4940950
NM_001374385.1(ATP8B1):c.*900G>T rs4940950
NM_001374385.1(ATP8B1):c.-25-4014_181+2209del
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
NM_001374385.1(ATP8B1):c.1193C>T (p.Thr398Ile) rs1484507624
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs) rs1912544280
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
NM_001374385.1(ATP8B1):c.1367C>T (p.Thr456Met) rs121909104
NM_001374385.1(ATP8B1):c.1426T>A (p.Tyr476Asn)
NM_001374385.1(ATP8B1):c.1429+1G>T
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129
NM_001374385.1(ATP8B1):c.1473+2T>C rs1568195257
NM_001374385.1(ATP8B1):c.1553C>G (p.Ser518Ter)
NM_001374385.1(ATP8B1):c.1556G>A (p.Gly519Glu) rs886054011
NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter) rs770257115
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs) rs1599166106
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter) rs775370485
NM_001374385.1(ATP8B1):c.1932+1G>A rs1568188537
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter) rs2122711426
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-18_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-20_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
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.2251G>T (p.Glu751Ter) rs1057524081
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn) rs1599090593
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939
NM_001374385.1(ATP8B1):c.2418+5G>A
NM_001374385.1(ATP8B1):c.2500_2588del (p.Met834fs)
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys) rs121909103
NM_001374385.1(ATP8B1):c.2609C>G (p.Pro870Arg)
NM_001374385.1(ATP8B1):c.2614dup (p.Gln872fs)
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met) rs540027832
NM_001374385.1(ATP8B1):c.2742_2743delinsT (p.Glu914fs)
NM_001374385.1(ATP8B1):c.2800A>G (p.Arg934Gly)
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
NM_001374385.1(ATP8B1):c.3015+1G>T rs1599069873
NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter) rs781213892
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
NM_001374385.1(ATP8B1):c.3261+1G>C rs1568178734
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val) rs1599066459
NM_001374385.1(ATP8B1):c.3400+2T>C
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.3490C>T (p.Arg1164Ter)
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.3531+1G>A
NM_001374385.1(ATP8B1):c.3699G>A (p.Pro1233=) rs35953143
NM_001374385.1(ATP8B1):c.3722del (p.Gly1241fs)
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
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.555-1G>C
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs) rs1912903065
NM_001374385.1(ATP8B1):c.627+5G>T rs745696446
NM_001374385.1(ATP8B1):c.676G>A (p.Val226Met) rs1449849281
NM_001374385.1(ATP8B1):c.696_697inv (p.Gly233Arg)
NM_001374385.1(ATP8B1):c.699-2A>G
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
NM_001374385.1(ATP8B1):c.782-5A>T rs886054013
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)

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