List of variants in gene combination KAT5, RNASEH2C reported as uncertain significance for Aicardi-Goutieres syndrome 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_032193.4(RNASEH2C):c.*1699G>C	rs149989742	0.00233
NM_032193.4(RNASEH2C):c.*1594G>A	rs761492773	0.00113
NM_032193.4(RNASEH2C):c.*317C>T	rs549238084	0.00110
NM_032193.4(RNASEH2C):c.*456G>A	rs561937926	0.00053
NM_032193.4(RNASEH2C):c.*363C>T	rs547082810	0.00040
NM_032193.4(RNASEH2C):c.*1737C>T	rs886048487	0.00029
NM_032193.4(RNASEH2C):c.*1977C>T	rs886048482	0.00018
NM_032193.4(RNASEH2C):c.*385C>A	rs757672652	0.00017
NM_032193.4(RNASEH2C):c.*440G>C	rs544558074	0.00016
NM_032193.4(RNASEH2C):c.*747G>A	rs201326733	0.00015
NM_032193.4(RNASEH2C):c.*1658G>C	rs886048488	0.00013
NM_032193.4(RNASEH2C):c.*1532G>A	rs376966597	0.00005
NM_032193.4(RNASEH2C):c.*541C>T	rs756513194	0.00005
NM_032193.4(RNASEH2C):c.*1504G>A	rs886048489	0.00002
NM_032193.4(RNASEH2C):c.*1778C>G	rs886048485	0.00002
NM_032193.4(RNASEH2C):c.*223G>A	rs886048497	0.00002
NM_032193.4(RNASEH2C):c.*940A>G	rs767097041	0.00002
NM_032193.4(RNASEH2C):c.*374T>G	rs533143132	0.00001
NM_032193.4(RNASEH2C):c.*719T>G	rs886048492	0.00001
NM_032193.4(RNASEH2C):c.*1217G>C	rs886048490
NM_032193.4(RNASEH2C):c.*1378G>C	rs746434462
NM_032193.4(RNASEH2C):c.*1768C>T	rs886048486
NM_032193.4(RNASEH2C):c.*1806G>A	rs886048484
NM_032193.4(RNASEH2C):c.*1831G>A	rs886048483
NM_032193.4(RNASEH2C):c.*451C>T	rs886048496
NM_032193.4(RNASEH2C):c.*532C>G	rs886048495
NM_032193.4(RNASEH2C):c.*560C>T	rs886048494
NM_032193.4(RNASEH2C):c.*706T>A	rs886048493
NM_032193.4(RNASEH2C):c.*862A>C	rs886048491

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