ClinVar Miner

List of variants reported as benign for autoimmune disorder of cardiovascular system by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
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_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_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

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