ClinVar Miner

List of variants reported as benign for dermatitis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
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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_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_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) rs11229070 0.01377
NM_014382.4(ATP2C1):c.*1820A>G rs72628536 0.01112
NM_001378687.1(ATP2C1):c.1348G>A (p.Ala450Thr) rs41434650 0.01025
NM_001378687.1(ATP2C1):c.*686G>A rs150024961 0.00771
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_000505.4(F12):c.398-12C>T rs56285942 0.00495
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_000505.4(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_001378687.1(ATP2C1):c.*998C>T rs116671177 0.00231
NM_000062.3(SERPING1):c.468C>T (p.Ala156=) rs150601964 0.00138
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_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_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_001378687.1(ATP2C1):c.1570+9A>G rs199864073 0.00064
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) rs11546661 0.00049
NM_001378687.1(ATP2C1):c.585T>C (p.Cys195=) rs2760272 0.00045
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_000062.3(SERPING1):c.-24G>C rs112290300 0.00016
NM_001378687.1(ATP2C1):c.2057+7T>A rs368071107 0.00011
NM_001378687.1(ATP2C1):c.782G>A (p.Ser261Asn) rs200665127 0.00006
NM_012275.3(IL36RN):c.245C>T (p.Pro82Leu) rs144182857 0.00006
NM_001378687.1(ATP2C1):c.635C>T (p.Ser212Leu) rs200427297 0.00005
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_001378687.1(ATP2C1):c.-33T>C rs201306089 0.00001
NM_000062.3(SERPING1):c.1029+5G>T rs575103656
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) rs199473715
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_001378687.1(ATP2C1):c.-180-33C>A rs181664730
NM_001378687.1(ATP2C1):c.531+10G>A rs559826369
NM_012275.3(IL36RN):c.*401A>T rs3180234

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