ClinVar Miner

List of variants studied for dermatitis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_012275.3(IL36RN):c.*863C>T rs2515404 0.78209
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_012275.3(IL36RN):c.*276A>G rs1800930 0.64674
NM_012275.3(IL36RN):c.*418A>G rs3180235 0.64649
NM_012275.3(IL36RN):c.*560C>G rs2472188 0.64649
NM_012275.3(IL36RN):c.*946T>C rs957201 0.64647
NM_012275.3(IL36RN):c.*222T>C rs2515401 0.64643
NM_012275.3(IL36RN):c.*326C>A rs2515402 0.64633
NM_012275.3(IL36RN):c.*478T>C rs2515403 0.64623
NM_012275.3(IL36RN):c.*1399T>C rs768627 0.63435
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21304
NM_012275.3(IL36RN):c.*1914C>T rs2515406 0.17177
NM_012275.3(IL36RN):c.*1082C>A rs957200 0.17157
NM_012275.3(IL36RN):c.*1987G>A rs996879 0.17155
NM_012275.3(IL36RN):c.*1633C>T rs2515405 0.17068
NM_012275.3(IL36RN):c.*1634A>G rs2472189 0.17068
NM_012275.3(IL36RN):c.*1881G>T rs996878 0.15858
NM_001378687.1(ATP2C1):c.2598G>A (p.Lys866=) rs16835513 0.12740
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084 0.08811
NM_001378687.1(ATP2C1):c.6+15C>G rs112703671 0.05056
NM_012275.3(IL36RN):c.*828G>A rs114189538 0.04709
NM_000374.5(UROD):c.-134T>G rs7536892 0.03627
NM_012275.3(IL36RN):c.*935G>C rs11675540 0.03294
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_001378687.1(ATP2C1):c.636G>A (p.Ser212=) rs6810181 0.03154
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_012275.3(IL36RN):c.*1902T>C rs28939968 0.01844
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) rs11229070 0.01377
NM_012275.3(IL36RN):c.*308T>G rs114200724 0.01255
NM_012275.3(IL36RN):c.*1660G>A rs74502334 0.01253
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_000374.5(UROD):c.*3G>A rs74349352 0.00902
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
NM_012275.3(IL36RN):c.*1763G>A rs72946729 0.00725
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_000374.5(UROD):c.952G>A (p.Gly318Arg) rs116233118 0.00531
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115 0.00527
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000374.5(UROD):c.450G>A (p.Pro150=) rs2234479 0.00475
NM_012275.3(IL36RN):c.*1995T>C rs28938782 0.00468
NM_001378687.1(ATP2C1):c.1623G>C (p.Leu541Phe) rs61731516 0.00466
NM_001378687.1(ATP2C1):c.1683C>T (p.Ala561=) rs114319700 0.00372
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NM_012275.3(IL36RN):c.140A>G (p.Asn47Ser) rs28938777 0.00348
NM_001378687.1(ATP2C1):c.117+7G>A rs41266501 0.00334
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_001378687.1(ATP2C1):c.*1545A>G rs372789446 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_012275.3(IL36RN):c.6C>T (p.Val2=) rs28938771 0.00221
NM_012275.3(IL36RN):c.*1866T>C rs72946731 0.00214
NM_000062.3(SERPING1):c.468C>T (p.Ala156=) rs150601964 0.00138
NM_000374.4(UROD):c.-52C>A rs41269103 0.00136
NM_000062.3(SERPING1):c.167T>C (p.Val56Ala) rs11546660 0.00124
NM_012275.3(IL36RN):c.169G>A (p.Val57Ile) rs77864207 0.00124
NM_014382.4(ATP2C1):c.*1839A>G rs141516276 0.00108
NM_001378687.1(ATP2C1):c.1840-12G>A rs201666095 0.00106
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000062.3(SERPING1):c.849C>T (p.Ser283=) rs143760635 0.00090
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_012275.3(IL36RN):c.*581C>G rs28938779 0.00080
NM_000374.5(UROD):c.474+15G>C rs369108963 0.00076
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) rs151274071 0.00070
NM_012275.3(IL36RN):c.*1849T>A rs554682838 0.00069
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_012275.3(IL36RN):c.*281G>A rs80220660 0.00054
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) rs11546661 0.00049
NM_000062.3(SERPING1):c.465C>T (p.His155=) rs201627388 0.00049
NM_000062.3(SERPING1):c.550+9C>G rs201294420 0.00046
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_000062.3(SERPING1):c.-36A>T rs761350979 0.00032
NM_000374.5(UROD):c.442C>T (p.Arg148Cys) rs147374926 0.00032
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_000374.5(UROD):c.774+12G>A rs186269864 0.00027
NM_000062.3(SERPING1):c.*66T>C rs899262177 0.00024
NM_000062.3(SERPING1):c.686-5C>G rs28362952 0.00022
NM_000374.4(UROD):c.*80A>G rs144315045 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_000374.5(UROD):c.390G>T (p.Glu130Asp) rs138585833 0.00020
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00019
NM_012275.3(IL36RN):c.*594T>C rs144995197 0.00019
NM_000062.3(SERPING1):c.-24G>C rs112290300 0.00016
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) rs141529833 0.00016
NM_000374.4(UROD):c.-51T>C rs370067756 0.00016
NM_001378687.1(ATP2C1):c.1146A>G (p.Gln382=) rs141822193 0.00016
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00014
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_000062.2(SERPING1):c.-99C>G rs866115469 0.00010
NM_000374.5(UROD):c.158A>G (p.Gln53Arg) rs199597323 0.00010
NM_000374.5(UROD):c.745C>T (p.Arg249Trp) rs137978913 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00007
NM_012275.3(IL36RN):c.244-5G>A rs754661425 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 0.00007
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) rs147409450 0.00006
NM_000374.5(UROD):c.*45C>T rs371078664 0.00006
NM_000374.5(UROD):c.27G>C (p.Gln9His) rs150027651 0.00006
NM_001378687.1(ATP2C1):c.*1255G>A rs886057991 0.00006
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_012275.3(IL36RN):c.*6C>T rs189986394 0.00006
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) rs144182857 0.00006
NM_173170.1(IL36RN):c.-27-318G>A rs759570472 0.00006
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_001378687.1(ATP2C1):c.135T>C (p.Gly45=) rs753216597 0.00005
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=) rs148190902 0.00005
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys) rs752993036 0.00004
NM_000374.5(UROD):c.578G>A (p.Arg193His) rs143823335 0.00004
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_012275.3(IL36RN):c.*1540G>A rs886054770 0.00004
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00003
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00003
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_012275.3(IL36RN):c.*1844A>G rs776033400 0.00003
NM_012275.3(IL36RN):c.*185C>T rs3207837 0.00003
NM_012275.3(IL36RN):c.*883T>C rs1044606674 0.00003
NM_000062.3(SERPING1):c.1434C>T (p.Leu478=) rs768058061 0.00002
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) rs182779591 0.00002
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) rs1433680488 0.00002
NM_000374.4(UROD):c.-67G>A rs767012968 0.00002
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_012275.3(IL36RN):c.248T>A (p.Val83Glu) rs886054767 0.00002
NM_000062.2(SERPING1):c.-94C>G rs1190911080 0.00001
NM_000062.3(SERPING1):c.135C>T (p.Val45=) rs886048399 0.00001
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) rs886048400 0.00001
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) rs1371887844 0.00001
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) rs145436911 0.00001
NM_000374.5(UROD):c.561T>C (p.Ala187=) rs780519904 0.00001
NM_000374.5(UROD):c.679C>G (p.Gln227Glu) rs546150911 0.00001
NM_000374.5(UROD):c.738C>T (p.Ala246=) rs757178659 0.00001
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_001378687.1(ATP2C1):c.*1203del rs886057988 0.00001
NM_001378687.1(ATP2C1):c.*1204A>T rs886057989 0.00001
NM_001378687.1(ATP2C1):c.*1264T>C rs886057992 0.00001
NM_001378687.1(ATP2C1):c.*609A>G rs1198664761 0.00001
NM_001378687.1(ATP2C1):c.*881A>G rs181188000 0.00001
NM_001378687.1(ATP2C1):c.*946T>G rs886057987 0.00001
NM_001378687.1(ATP2C1):c.-180-72G>A rs951311479 0.00001
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_001378687.1(ATP2C1):c.-66C>T rs886057979 0.00001
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg) rs1329817993 0.00001
NM_001378687.1(ATP2C1):c.2232C>A (p.Pro744=) rs761270371 0.00001
NM_001378687.1(ATP2C1):c.532-6C>T rs886057981 0.00001
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val) rs1349846001 0.00001
NM_001378687.1(ATP2C1):c.899+6T>C rs1430775611 0.00001
NM_012275.3(IL36RN):c.*1244A>G rs1685693942 0.00001
NM_012275.3(IL36RN):c.*1258C>A rs147788845 0.00001
NM_012275.3(IL36RN):c.*1585A>G rs886054771 0.00001
NM_012275.3(IL36RN):c.*1891G>A rs1330509196 0.00001
NM_012275.3(IL36RN):c.*426G>T rs1165763738 0.00001
NM_012275.3(IL36RN):c.-28+1G>A rs1440056356 0.00001
NM_012275.3(IL36RN):c.333C>T (p.Phe111=) rs199824136 0.00001
NM_000062.2(SERPING1):c.-100C>G rs578018379
NM_000062.2(SERPING1):c.-105C>A rs886048397
NM_000062.2(SERPING1):c.-99dup rs28362939
NM_000062.3(SERPING1):c.-56T>G rs886048398
NM_000062.3(SERPING1):c.1029+5G>T rs575103656
NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp) rs1590831488
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) rs1945331471
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) rs1945333871
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) rs199473715
NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly) rs1392305191
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) rs754401203
NM_000374.4(UROD):c.-57dup rs777548921
NM_000374.5(UROD):c.*70G>A rs41269105
NM_000374.5(UROD):c.-1C>T rs886046364
NM_000374.5(UROD):c.21-12C>T rs775210041
NM_000374.5(UROD):c.240T>G (p.Ala80=) rs1644820833
NM_000374.5(UROD):c.383C>A (p.Ala128Asp) rs141792226
NM_000374.5(UROD):c.463G>A (p.Ala155Thr) rs1457521997
NM_000374.5(UROD):c.693G>A (p.Lys231=) rs143180539
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.1251-7C>T rs375340260
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226
NM_001378687.1(ATP2C1):c.*1021G>C rs2062932036
NM_001378687.1(ATP2C1):c.*1471T>A rs878906207
NM_001378687.1(ATP2C1):c.*1564C>T rs886057993
NM_001378687.1(ATP2C1):c.*1786G>A rs2062970980
NM_001378687.1(ATP2C1):c.*322ATCT[1] rs886057984
NM_001378687.1(ATP2C1):c.*343T>A rs777719092
NM_001378687.1(ATP2C1):c.*350del rs200037424
NM_001378687.1(ATP2C1):c.*493TGTAA[1] rs141448272
NM_001378687.1(ATP2C1):c.*581T>C rs1236440824
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.-180-57C>T rs115940289
NM_001378687.1(ATP2C1):c.-64A>G rs886057980
NM_001378687.1(ATP2C1):c.-80TC[1] rs886057978
NM_001378687.1(ATP2C1):c.1309-13T>C rs533035827
NM_001378687.1(ATP2C1):c.1571-11T>C rs2061653618
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys) rs781604274
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=) rs2062610077
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val) rs765124724
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=) rs886057983
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser) rs2059404554
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile) rs1173877573
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=) rs886057982
NM_012275.3(IL36RN):c.*1051T>C rs886054769
NM_012275.3(IL36RN):c.*106G>A rs182598494
NM_012275.3(IL36RN):c.*1405G>T rs1315608540
NM_012275.3(IL36RN):c.*1641C>G rs549754573
NM_012275.3(IL36RN):c.*1698G>A rs1379624001
NM_012275.3(IL36RN):c.*1942C>G rs886054772
NM_012275.3(IL36RN):c.*298G>A rs1685673604
NM_012275.3(IL36RN):c.*401A>C rs3180234
NM_012275.3(IL36RN):c.*401A>T rs3180234
NM_012275.3(IL36RN):c.*720G>T rs771527648
NM_012275.3(IL36RN):c.*857A>G rs886054768
NM_012275.3(IL36RN):c.*866G>A rs1685687215
NM_012275.3(IL36RN):c.-47G>A rs886054765
NM_012275.3(IL36RN):c.29+5G>A rs1685595922
NM_012275.3(IL36RN):c.30-14T>A rs886054766
NM_012275.3(IL36RN):c.421G>A (p.Gly141Ser) rs1424377493
NM_173170.1(IL36RN):c.-27-299G>C rs552166255

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