ClinVar Miner

List of variants reported as pathogenic for psoriasis

Included ClinVar conditions (7):
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Total variants: 24
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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.227C>T (p.Pro76Leu) rs139497891 0.00017
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_012275.3(IL36RN):c.80T>C (p.Leu27Pro) rs387906914 0.00002
NM_001366385.1(CARD14):c.349G>A (p.Gly117Ser) rs281875215 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
NC_000002.11:g.(?_113816996)_(113820274_?)del
NC_000002.11:g.(?_113817016)_(113890448_?)del
NM_001366385.1(CARD14):c.349+1G>A rs886041402
NM_001366385.1(CARD14):c.349+2T>C
NM_001366385.1(CARD14):c.349+5G>A rs587777763
NM_001366385.1(CARD14):c.371T>C (p.Leu124Pro) rs1598639617
NM_001366385.1(CARD14):c.424G>A (p.Glu142Lys) rs281875212
NM_001366385.1(CARD14):c.425A>G (p.Glu142Gly) rs281875213
NM_001366385.1(CARD14):c.467T>C (p.Leu156Pro) rs387907240
NM_012275.3(IL36RN):c.16del (p.Ala6fs)
NM_012275.3(IL36RN):c.184C>T (p.Gln62Ter) rs2466805738
NM_012275.3(IL36RN):c.205_212del (p.Ser69fs)
NM_012275.3(IL36RN):c.273del (p.Ala92fs)
NM_012275.3(IL36RN):c.368C>G (p.Thr123Arg) rs397514629
NM_012275.3(IL36RN):c.420_426del (p.Gly141fs) rs747464195

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