ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425 0.00165
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_024570.4(RNASEH2B):c.523G>A (p.Val175Met) rs141049110 0.00053
NM_024570.4(RNASEH2B):c.-228C>A rs577725827 0.00051
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) rs551573692 0.00013
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.-145G>A rs1227696445 0.00003
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024570.4(RNASEH2B):c.*12T>C rs773052815 0.00001
NM_024570.4(RNASEH2B):c.*159A>G rs886050292 0.00001
NM_024570.4(RNASEH2B):c.*249T>C rs886050293 0.00001
NM_024570.4(RNASEH2B):c.*29A>G rs1200577478 0.00001
NM_024570.4(RNASEH2B):c.-181G>A rs886050288 0.00001
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569 0.00001
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00001
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala) rs1363075189 0.00001
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu) rs746153565 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 0.00001
NM_001142279.2(RNASEH2B):c.-293A>G rs1879223372
NM_001142279.2(RNASEH2B):c.-294C>T rs1879223150
NM_024570.4(RNASEH2B):c.*174C>T rs1952055649
NM_024570.4(RNASEH2B):c.*63G>T rs751735556
NM_024570.4(RNASEH2B):c.-107G>A rs886050289
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=) rs768340427
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly) rs1951613237

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