ClinVar Miner

List of variants in gene RNASEH2B reported as uncertain significance for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP
NC_000013.11:g.(?_50953885)_(50956494_?)del
NM_001142279.2(RNASEH2B):c.-107G>A rs886050289
NM_001142279.2(RNASEH2B):c.-181G>A rs886050288
NM_001142279.2(RNASEH2B):c.-228C>A rs577725827
NM_001142279.2(RNASEH2B):c.-293A>G
NM_001142279.2(RNASEH2B):c.-294C>T
NM_001142279.2(RNASEH2B):c.-313C>G rs886050287
NM_001142279.2(RNASEH2B):c.-399C>G rs553965425
NM_001142279.2(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_001142279.2(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569
NM_001142279.2(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126
NM_001142279.2(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_001142279.2(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382
NM_001142279.2(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944
NM_001142279.2(RNASEH2B):c.40C>T (p.Arg14Trp) rs900876937
NM_001142279.2(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382
NM_001142279.2(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256
NM_001142279.2(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_001142279.2(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001142279.2(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_001142279.2(RNASEH2B):c.523G>A (p.Val175Met) rs141049110
NM_001142279.2(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_001142279.2(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413
NM_001142279.2(RNASEH2B):c.699-11A>G rs886050290
NM_001142279.2(RNASEH2B):c.741+4414A>G rs200721645
NM_001142279.2(RNASEH2B):c.741+4440A>T rs1307271194
NM_001142279.2(RNASEH2B):c.741+4445A>G rs150363383
NM_001142279.2(RNASEH2B):c.741+4485G>A rs761333168
NM_001142279.2(RNASEH2B):c.741+6898G>A rs201190805
NM_001142279.2(RNASEH2B):c.741+6927C>A rs886050291
NM_001142279.2(RNASEH2B):c.741+7032G>T rs751735556
NM_001142279.2(RNASEH2B):c.741+7128A>G rs886050292
NM_001142279.2(RNASEH2B):c.741+7215A>G rs147825612
NM_001142279.2(RNASEH2B):c.741+7218T>C rs886050293
NM_024570.4(RNASEH2B):c.*12T>C
NM_024570.4(RNASEH2B):c.*174C>T
NM_024570.4(RNASEH2B):c.*29A>G
NM_024570.4(RNASEH2B):c.*76T>A
NM_024570.4(RNASEH2B):c.-145G>A
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln)
NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)
NM_024570.4(RNASEH2B):c.244+3A>G
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val)
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu)
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327
NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala)
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=)
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp)
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu)
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe)
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly)
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu)
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg)
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr)

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