ClinVar Miner

List of variants reported as uncertain significance for cutaneous lupus erythematosus by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.623G>C (p.Cys208Ser) rs146524913 0.00009
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715 0.00009
NM_033629.6(TREX1):c.250A>G (p.Ile84Val) rs775075513 0.00004
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_033629.6(TREX1):c.633A>C (p.Arg211Ser) rs1433877282

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