ClinVar Miner

List of variants reported as pathogenic for dermatitis by OMIM

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_012275.3(IL36RN):c.104A>G (p.Lys35Arg) rs187015338 0.00006
NM_000374.5(UROD):c.636+1G>C rs145195562 0.00003
NM_000374.5(UROD):c.842G>T (p.Gly281Val) rs121918057 0.00003
NM_012275.3(IL36RN):c.80T>C (p.Leu27Pro) rs387906914 0.00002
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000374.5(UROD):c.346C>T (p.Gln116Ter) rs397514765 0.00001
NM_000374.5(UROD):c.494T>G (p.Met165Arg) rs121918063 0.00001
NM_000374.5(UROD):c.912C>A (p.Asn304Lys) rs121918065 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser) rs746467957 0.00001
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 0.00001
NM_001378687.1(ATP2C1):c.2126+1G>A rs748204512 0.00001
NM_012275.3(IL36RN):c.28C>T (p.Arg10Ter) rs397514630 0.00001
NM_012275.3(IL36RN):c.304C>T (p.Arg102Trp) rs199932303 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 0.00001
NC_000011.10:g.57597582C>T rs2135304804
NG_009625.1:g.(13995_19163)_(19384_21774)del
NM_000062.3(SERPING1):c.1249+1G>T rs112565881
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) rs1554996817
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) rs1554996819
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) rs606231141
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) rs121907949
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) rs121907947
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) rs763451792
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000222.3(KIT):c.1598C>A (p.Ala533Asp) rs753212327
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) rs121913682
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000374.5(UROD):c.185C>T (p.Pro62Leu) rs121918060
NM_000374.5(UROD):c.499G>A (p.Glu167Lys) rs121918058
NM_000374.5(UROD):c.583C>T (p.Leu195Phe) rs121918064
NM_000374.5(UROD):c.6_15del (p.Glu2fs) rs397514764
NM_000374.5(UROD):c.842G>A (p.Gly281Glu) rs121918057
NM_000374.5(UROD):c.874C>G (p.Arg292Gly) rs121918059
NM_000374.5(UROD):c.942G>A (p.Glu314=) rs121918062
NM_000374.5(UROD):c.995G>A (p.Arg332His) rs121918066
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys) rs765933558
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) rs1369253342
NM_001366385.1(CARD14):c.349+5G>A rs587777763
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001378687.1(ATP2C1):c.1402C>T (p.Arg468Ter) rs137853013
NM_001378687.1(ATP2C1):c.1469G>T (p.Cys490Phe) rs137853014
NM_001378687.1(ATP2C1):c.1751T>C (p.Leu584Pro) rs137853015
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001378687.1(ATP2C1):c.2460del (p.Met820fs) rs1560033613
NM_001378687.1(ATP2C1):c.769_772dup (p.Leu258fs) rs1559971447
NM_001378687.1(ATP2C1):c.900-1G>A rs1559982055
NM_001378687.1(ATP2C1):c.910G>A (p.Ala304Thr) rs137853012
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg) rs397514629
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr) rs199718602

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