ClinVar Miner

List of variants reported as benign for cutaneous lupus erythematosus

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.208+158A>G rs6030389 0.90232
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797 0.62991
NM_015474.4(SAMHD1):c.276-105C>A rs6030312 0.44115
NM_130384.3(ATRIP):c.*1632= rs11797 0.37009
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945 0.04049
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943 0.00490
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_080628.3(TLDC2):c.*18-170C>T rs143588093 0.00244
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_015474.3(SAMHD1):c.-166G>T rs546207604 0.00197
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_080628.3(TLDC2):c.*18-25A>G rs147220022 0.00038
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_033629.6(TREX1):c.120C>T (p.His40=) rs758622317 0.00011
NM_033629.6(TREX1):c.843C>T (p.Ala281=) rs200719301 0.00010
NM_033629.6(TREX1):c.504C>G (p.Pro168=) rs747052975 0.00009
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_080628.3(TLDC2):c.*18-50G>A rs188941712 0.00006
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_033629.6(TREX1):c.879G>C (p.Leu293=) rs368090024 0.00001
NM_033629.6(TREX1):c.678C>G (p.Phe226Leu)

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