List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 5 by Illumina Laboratory Services, Illumina

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Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_080628.3(TLDC2):c.*18-170C>T	rs143588093	0.00244
NM_080628.3(TLDC2):c.*18-435A>T	rs747128919	0.00139
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.1393C>A (p.Gln465Lys)	rs142393072	0.00012
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)	rs202024857	0.00011
NM_015474.4(SAMHD1):c.697-11A>G	rs200458478	0.00011
NM_080628.3(TLDC2):c.*18-292C>T	rs886056646	0.00009
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)	rs775762131	0.00007
NM_015474.4(SAMHD1):c.-10A>G	rs199721283	0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln)	rs767413799	0.00006
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)	rs775726168	0.00004
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.1445G>A (p.Ser482Asn)	rs373079404	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.1324C>T (p.Arg442Ter)	rs369587937
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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