ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.*16G>A rs193922100 0.00105
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000053.4(ATP7B):c.1543+13C>T rs200171850 0.00062
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.2448-11G>A rs200450017 0.00034
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.1291T>C (p.Cys431Arg) rs145173864 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.4022-19C>T rs369736734 0.00006
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2447+8A>G rs747586752 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.1869+20A>G rs566255910 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) rs756883878 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) rs551275663 0.00001
NM_000053.4(ATP7B):c.-74C>A rs193922101
NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala)
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) rs781780227
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val) rs1951971023
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) rs749968753
NM_000053.4(ATP7B):c.1543+15C>G rs1365158305
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1946+5dup
NM_000053.4(ATP7B):c.1947-5T>C rs1958647927
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys) rs2139534075
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
NM_000053.4(ATP7B):c.2666A>T (p.His889Leu)
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=) rs758712064
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) rs1397311718
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) rs1376645882
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys) rs1957150974
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr) rs1333619338
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) rs1555282748
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser) rs1555282338
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)

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