ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 3 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_032193.4(RNASEH2C):c.*1527A>C rs521678 0.88416
NM_032193.4(RNASEH2C):c.*1917T>C rs535111 0.37725
NM_032193.4(RNASEH2C):c.*2036C>T rs3372 0.30708
NM_032193.4(RNASEH2C):c.*1776C>T rs4645936 0.03991
NM_032193.4(RNASEH2C):c.*2097C>T rs4645934 0.03137
NM_032193.4(RNASEH2C):c.*1007C>G rs112903919 0.01000
NM_032193.4(RNASEH2C):c.*1295T>C rs4645937 0.00847
NM_032193.4(RNASEH2C):c.*1699G>C rs149989742 0.00233
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_032193.4(RNASEH2C):c.*542G>A rs186106053 0.00206
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 0.00178
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_032193.4(RNASEH2C):c.-10A>G rs77371161 0.00135
NM_032193.4(RNASEH2C):c.*1017G>A rs4645938 0.00130
NM_032193.4(RNASEH2C):c.*317C>T rs549238084 0.00110
NM_032193.4(RNASEH2C):c.*295C>T rs538167829 0.00067
NM_032193.4(RNASEH2C):c.*1594G>A rs761492773 0.00064
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 0.00016
NM_032193.4(RNASEH2C):c.*440G>C rs544558074 0.00016
NM_032193.4(RNASEH2C):c.268A>G (p.Lys90Glu) rs200659526 0.00016
NM_032193.4(RNASEH2C):c.269A>T (p.Lys90Met) rs772347588 0.00016
NM_032193.4(RNASEH2C):c.*747G>A rs201326733 0.00015
NM_032193.4(RNASEH2C):c.*1658G>C rs886048488 0.00013
NM_032193.3(RNASEH2C):c.-186A>C rs931060333 0.00007
NM_032193.4(RNASEH2C):c.*1621A>G rs373799308 0.00007
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.*29A>G rs886048499 0.00003
NM_032193.4(RNASEH2C):c.472C>G (p.His158Asp) rs759118175 0.00003
NM_032193.4(RNASEH2C):c.61T>C (p.Leu21=) rs376140250 0.00003
NM_032193.3(RNASEH2C):c.-139G>T rs928515689 0.00002
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.*572C>T rs200332583 0.00002
NM_032193.4(RNASEH2C):c.*940A>G rs767097041 0.00002
NM_032193.4(RNASEH2C):c.*178C>G rs3180585 0.00001
NM_032193.4(RNASEH2C):c.*27C>G rs886048500 0.00001
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.173-14G>A rs886048502 0.00001
NM_032193.4(RNASEH2C):c.455G>A (p.Ser152Asn) rs781376271 0.00001
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.-89C>G rs886048503
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.*310C>T rs190723966
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
NM_032193.4(RNASEH2C):c.-27G>T rs549471118
NM_032193.4(RNASEH2C):c.173-4C>G rs886048501
NM_032193.4(RNASEH2C):c.348C>G (p.Phe116Leu) rs1314714026
NM_032193.4(RNASEH2C):c.455G>T (p.Ser152Ile) rs781376271
NM_032193.4(RNASEH2C):c.468+5G>C rs753880827
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695

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