ClinVar Miner

List of variants reported as uncertain significance for Chilblain lupus 2 by Illumina Laboratory Services, Illumina

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Total variants: 23
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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_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_080628.3(TLDC2):c.*18-801C>T rs1030352932 0.00002
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 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_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
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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