ClinVar Miner

List of variants in gene SAMHD1, TLDC2 studied for familial chilblain lupus

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.*629C>T rs8124728 0.05345
NM_015474.4(SAMHD1):c.*288A>G rs114791229 0.00502
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_015474.4(SAMHD1):c.*1008C>G rs116489517 0.00406
NM_015474.4(SAMHD1):c.*45C>T rs115645414 0.00402
NM_015474.4(SAMHD1):c.*240G>A rs143588093 0.00244
NM_015474.4(SAMHD1):c.*71C>A rs138927042 0.00229
NM_015474.4(SAMHD1):c.*505T>A rs747128919 0.00139
NM_015474.4(SAMHD1):c.*95T>C rs147220022 0.00038
NM_015474.4(SAMHD1):c.*362G>A rs886056646 0.00009
NM_015474.4(SAMHD1):c.*120C>T rs188941712 0.00006
NM_015474.4(SAMHD1):c.*503A>G rs757372495 0.00004
NM_015474.4(SAMHD1):c.*536C>T rs886056645 0.00004
NM_015474.4(SAMHD1):c.*871G>A rs1030352932 0.00002
NM_015474.4(SAMHD1):c.*104G>C rs570535296 0.00001
NM_015474.4(SAMHD1):c.*648C>T rs1414917474 0.00001
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00001
NM_015474.4(SAMHD1):c.*711A>C rs886056644
NM_015474.4(SAMHD1):c.*717G>C rs1990092783
NM_015474.4(SAMHD1):c.*882T>C rs1990087887

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