ClinVar Miner

List of variants in gene KAT5, RNASEH2C studied for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
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Total variants: 42
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HGVS dbSNP
NM_032193.4(RNASEH2C):c.*1007C>G
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.*295C>T
NM_032193.4(RNASEH2C):c.*310C>T
NM_032193.4(RNASEH2C):c.*317C>T
NM_032193.4(RNASEH2C):c.*374T>G
NM_032193.4(RNASEH2C):c.*572C>T
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.*60C>T rs186106053
NM_182710.3(KAT5):c.*61G>A rs756513194
NM_182710.3(KAT5):c.*70G>C rs886048495
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-102A>G rs4645937
NM_182710.3(KAT5):c.1265-24C>G rs886048490
NM_182710.3(KAT5):c.1265-311C>T rs886048489
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-401C>T rs761492773
NM_182710.3(KAT5):c.1265-428T>C rs373799308
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.1265-583G>A rs4645936
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.1265-724A>G rs535111
NM_182710.3(KAT5):c.1265-784G>A rs886048482
NM_182710.3(KAT5):c.1424+17C>T rs4645938
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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