ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 3 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NC_000011.10:g.65720897C>A
NC_000011.10:g.65720944T>G
NM_032193.3(RNASEH2C):c.*27C>G rs886048500
NM_032193.3(RNASEH2C):c.*29A>G rs886048499
NM_032193.3(RNASEH2C):c.-27G>T rs549471118
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
NM_032193.3(RNASEH2C):c.173-14G>A rs886048502
NM_032193.3(RNASEH2C):c.173-4C>G rs886048501
NM_032193.3(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526
NM_032193.3(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+5G>C rs753880827
NM_032193.3(RNASEH2C):c.468+8G>A rs751767695
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp) rs759118175
NM_032193.4(RNASEH2C):c.*1378G>C
NM_032193.4(RNASEH2C):c.*1532G>A
NM_032193.4(RNASEH2C):c.*1699G>C
NM_032193.4(RNASEH2C):c.*178C>G
NM_032193.4(RNASEH2C):c.*317C>T
NM_032193.4(RNASEH2C):c.*374T>G
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu)
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn)
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile)
NM_182710.3(KAT5):c.*146C>T rs561937926
NM_182710.3(KAT5):c.*151G>A rs886048496
NM_182710.3(KAT5):c.*162C>G rs544558074
NM_182710.3(KAT5):c.*217G>T rs757672652
NM_182710.3(KAT5):c.*239G>A rs547082810
NM_182710.3(KAT5):c.*379C>T rs886048497
NM_182710.3(KAT5):c.*42G>A rs886048494
NM_182710.3(KAT5):c.*61G>A rs756513194
NM_182710.3(KAT5):c.*70G>C rs886048495
NM_182710.3(KAT5):c.1265-24C>G rs886048490
NM_182710.3(KAT5):c.1265-311C>T rs886048489
NM_182710.3(KAT5):c.1265-401C>T rs761492773
NM_182710.3(KAT5):c.1265-465C>G rs886048488
NM_182710.3(KAT5):c.1265-544G>A rs886048487
NM_182710.3(KAT5):c.1265-575G>A rs886048486
NM_182710.3(KAT5):c.1265-585G>C rs886048485
NM_182710.3(KAT5):c.1265-613C>T rs886048484
NM_182710.3(KAT5):c.1265-638C>T rs886048483
NM_182710.3(KAT5):c.1265-784G>A rs886048482
NM_182710.3(KAT5):c.1425-30T>C rs767097041
NM_182710.3(KAT5):c.1473T>G (p.Thr491=) rs886048491
NM_182710.3(KAT5):c.1507-11C>T rs201326733
NM_182710.3(KAT5):c.1524A>C (p.Thr508=) rs886048492
NM_182710.3(KAT5):c.1537A>T (p.Ile513Phe) rs886048493

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