ClinVar Miner

List of variants in gene combination SAMHD1, TLDC2 reported as uncertain significance for chilblain lupus 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_080628.3(TLDC2):c.*18-435A>T rs747128919 0.00139
NM_080628.3(TLDC2):c.*18-292C>T rs886056646 0.00009
NM_080628.3(TLDC2):c.*18-433T>C rs757372495 0.00004
NM_080628.3(TLDC2):c.*18-466G>A rs886056645 0.00004
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_080628.3(TLDC2):c.*18-34C>G rs570535296 0.00001
NM_080628.3(TLDC2):c.*18-578G>A rs1414917474 0.00001
NM_080628.3(TLDC2):c.*18-641T>G rs886056644
NM_080628.3(TLDC2):c.*18-647C>G rs1990092783
NM_080628.3(TLDC2):c.*18-812A>G rs1990087887

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