ClinVar Miner

List of variants in gene ATP8B1 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 124
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
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.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_001374385.1(ATP8B1):c.189A>G (p.Thr63=) rs35377845 0.00198
NM_001374385.1(ATP8B1):c.*10C>T rs147298165 0.00189
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.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001374385.1(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986 0.00077
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00075
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His) rs147642236 0.00063
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=) rs141463153 0.00055
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) rs33965008 0.00052
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=) rs140634215 0.00047
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly) rs200214627 0.00046
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
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.2332G>A (p.Val778Ile) rs34597611 0.00019
NM_001374385.1(ATP8B1):c.2380G>A (p.Gly794Ser) rs371546596 0.00019
NM_001374385.1(ATP8B1):c.1030-9G>A rs201532178 0.00018
NM_001374385.1(ATP8B1):c.184T>C (p.Cys62Arg) rs140577068 0.00017
NM_001374385.1(ATP8B1):c.1888C>T (p.His630Tyr) rs202100663 0.00016
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689 0.00014
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001374385.1(ATP8B1):c.3155T>G (p.Leu1052Arg) rs139083067 0.00014
NM_001374385.1(ATP8B1):c.3059T>C (p.Ile1020Thr) rs199514707 0.00013
NM_001374385.1(ATP8B1):c.3739C>T (p.Arg1247Cys) rs543866898 0.00011
NM_001374385.1(ATP8B1):c.2261C>T (p.Thr754Ile) rs201392345 0.00010
NM_001374385.1(ATP8B1):c.2418+4C>T rs777913106 0.00010
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.2771A>G (p.Tyr924Cys) rs145287364 0.00009
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=) rs762363452 0.00009
NM_001374385.1(ATP8B1):c.1813A>G (p.Ile605Val) rs369553314 0.00007
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=) rs376358532 0.00007
NM_001374385.1(ATP8B1):c.26C>T (p.Thr9Met) rs150268416 0.00006
NM_001374385.1(ATP8B1):c.3478G>A (p.Val1160Ile) rs745482154 0.00006
NM_001374385.1(ATP8B1):c.3589G>T (p.Val1197Leu) rs1376578283 0.00006
NM_001374385.1(ATP8B1):c.439C>G (p.Pro147Ala) rs778716817 0.00006
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=) rs201514636 0.00005
NM_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=) rs149156534 0.00005
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=) rs749127600 0.00005
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=) rs575921074 0.00005
NM_001374385.1(ATP8B1):c.3727G>A (p.Ala1243Thr) rs146405857 0.00005
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=) rs761202112 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=) rs747771646 0.00004
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 0.00004
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=) rs777459332 0.00004
NM_001374385.1(ATP8B1):c.511A>G (p.Lys171Glu) rs372654764 0.00004
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met) rs369011228 0.00004
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=) rs775490128 0.00003
NM_001374385.1(ATP8B1):c.116C>T (p.Ala39Val) rs757640278 0.00003
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile) rs200648620 0.00003
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719 0.00002
NM_001374385.1(ATP8B1):c.3175G>A (p.Val1059Ile) rs769485522 0.00002
NM_001374385.1(ATP8B1):c.3430T>C (p.Tyr1144His) rs1207988220 0.00002
NM_001374385.1(ATP8B1):c.3532-8C>G rs1322207888 0.00002
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=) rs751410046 0.00002
NM_001374385.1(ATP8B1):c.3605T>C (p.Val1202Ala) rs886043876 0.00002
NM_001374385.1(ATP8B1):c.1469T>C (p.Ile490Thr) rs749719993 0.00001
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=) rs754573787 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.2209+9T>C rs377124910 0.00001
NM_001374385.1(ATP8B1):c.2584G>A (p.Ala862Thr) rs774396862 0.00001
NM_001374385.1(ATP8B1):c.2762C>T (p.Ser921Leu) rs367575213 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001374385.1(ATP8B1):c.2932-9C>T rs776616431 0.00001
NM_001374385.1(ATP8B1):c.3278C>T (p.Ser1093Phe) rs1232432620 0.00001
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=) rs201160977 0.00001
NM_001374385.1(ATP8B1):c.632A>C (p.Asp211Ala) rs886043907 0.00001
NM_001374385.1(ATP8B1):c.8C>A (p.Thr3Lys) rs202024093 0.00001
NM_001374385.1(ATP8B1):c.1093C>G (p.Gln365Glu) rs771875476
NM_001374385.1(ATP8B1):c.1126G>A (p.Gly376Arg) rs900357360
NM_001374385.1(ATP8B1):c.1216G>A (p.Val406Ile) rs886043726
NM_001374385.1(ATP8B1):c.1234C>T (p.Arg412Cys) rs760934663
NM_001374385.1(ATP8B1):c.1256T>A (p.Ile419Asn) rs768539693
NM_001374385.1(ATP8B1):c.1274T>G (p.Met425Arg) rs1568196750
NM_001374385.1(ATP8B1):c.1413C>G (p.Ile471Met) rs1555691911
NM_001374385.1(ATP8B1):c.1633C>A (p.Gln545Lys) rs886043983
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.1671C>A (p.Ala557=) rs1555690522
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001374385.1(ATP8B1):c.1913A>T (p.Glu638Val) rs774428105
NM_001374385.1(ATP8B1):c.1922A>G (p.Asp641Gly) rs1422716324
NM_001374385.1(ATP8B1):c.2047C>A (p.Arg683=) rs1216021001
NM_001374385.1(ATP8B1):c.2209+10T>C rs1555689635
NM_001374385.1(ATP8B1):c.2209+3A>T rs1555689641
NM_001374385.1(ATP8B1):c.2256C>G (p.Asp752Glu) rs1568186302
NM_001374385.1(ATP8B1):c.2273G>C (p.Gly758Ala) rs781052203
NM_001374385.1(ATP8B1):c.2434G>A (p.Glu812Lys) rs773143911
NM_001374385.1(ATP8B1):c.2453_2456del (p.Asn818fs) rs1568183268
NM_001374385.1(ATP8B1):c.2605del (p.Thr869fs) rs1568183127
NM_001374385.1(ATP8B1):c.2681G>C (p.Gly894Ala) rs886043906
NM_001374385.1(ATP8B1):c.303_308del (p.Lys101_Tyr102del) rs1555693514
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=) rs1555693515
NM_001374385.1(ATP8B1):c.3151C>A (p.Pro1051Thr) rs370876900
NM_001374385.1(ATP8B1):c.3410C>G (p.Ser1137Ter) rs74414989
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=) rs748084795
NM_001374385.1(ATP8B1):c.3673del (p.Arg1225fs) rs1568176564
NM_001374385.1(ATP8B1):c.3682C>T (p.Arg1228Cys) rs371785570
NM_001374385.1(ATP8B1):c.37G>A (p.Glu13Lys) rs747649285
NM_001374385.1(ATP8B1):c.550G>A (p.Gly184Ser) rs1568202260
NM_001374385.1(ATP8B1):c.614dup (p.Asn205fs) rs761784230
NM_001374385.1(ATP8B1):c.825T>C (p.Phe275=) rs1568199811
NM_001374385.1(ATP8B1):c.921C>T (p.His307=) rs747429748

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.