ClinVar Miner

List of variants in gene RNASEH2B reported as uncertain significance for Aicardi-Goutieres syndrome 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.*246A>G rs147825612 0.00166
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.756A>G (p.Ser252=) rs200721645 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn) rs201190805 0.00029
NM_024570.4(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944 0.00020
NM_024570.4(RNASEH2B):c.*76T>A rs750903767 0.00009
NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) rs138649673 0.00009
NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) rs143523027 0.00008
NM_024570.4(RNASEH2B):c.244+3A>G rs371461579 0.00006
NM_024570.4(RNASEH2B):c.308A>G (p.Lys103Arg) rs767086382 0.00006
NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg) rs749003546 0.00006
NM_024570.4(RNASEH2B):c.734C>T (p.Pro245Leu) rs190327832 0.00005
NM_024570.4(RNASEH2B):c.193G>A (p.Val65Ile) rs541903338 0.00004
NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) rs145465454 0.00004
NM_024570.4(RNASEH2B):c.697A>C (p.Lys233Gln) rs774950202 0.00004
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 0.00004
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn) rs200802557 0.00004
NM_024570.4(RNASEH2B):c.165G>T (p.Met55Ile) rs1292841062 0.00003
NM_024570.4(RNASEH2B):c.245-8A>G rs1057517815 0.00003
NM_024570.4(RNASEH2B):c.269C>T (p.Pro90Leu) rs770203126 0.00003
NM_024570.4(RNASEH2B):c.407A>C (p.Lys136Thr) rs199935006 0.00003
NM_024570.4(RNASEH2B):c.440A>C (p.Asn147Thr) rs746633003 0.00003
NM_024570.4(RNASEH2B):c.914A>C (p.Asn305Thr) rs768415436 0.00003
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024570.4(RNASEH2B):c.511-4A>G rs1252856173 0.00002
NM_024570.4(RNASEH2B):c.617A>C (p.Glu206Ala) rs371740577 0.00002
NM_024570.4(RNASEH2B):c.905G>A (p.Gly302Glu) rs1462322143 0.00002
NM_024570.4(RNASEH2B):c.916A>T (p.Lys306Ter) rs774043353 0.00002
NM_024570.4(RNASEH2B):c.928G>A (p.Gly310Arg) rs771560732 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.111T>G (p.Phe37Leu) rs1458234584 0.00001
NM_024570.4(RNASEH2B):c.127C>T (p.Pro43Ser) rs762281569 0.00001
NM_024570.4(RNASEH2B):c.146C>T (p.Ala49Val) rs1951648776 0.00001
NM_024570.4(RNASEH2B):c.173A>G (p.Gln58Arg) rs759251667 0.00001
NM_024570.4(RNASEH2B):c.253C>T (p.Leu85Phe) rs1262454987 0.00001
NM_024570.4(RNASEH2B):c.304A>G (p.Ile102Val) rs761380890 0.00001
NM_024570.4(RNASEH2B):c.330T>G (p.Phe110Leu) rs999474934 0.00001
NM_024570.4(RNASEH2B):c.412C>T (p.Leu138Phe) rs78705382 0.00001
NM_024570.4(RNASEH2B):c.422T>C (p.Val141Ala) rs1363075189 0.00001
NM_024570.4(RNASEH2B):c.428A>T (p.Glu143Val) rs200535256 0.00001
NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp) rs754434417 0.00001
NM_024570.4(RNASEH2B):c.562C>T (p.Arg188Trp) rs765368182 0.00001
NM_024570.4(RNASEH2B):c.571T>A (p.Ser191Thr) rs555463211 0.00001
NM_024570.4(RNASEH2B):c.614A>G (p.Glu205Gly) rs1015708068 0.00001
NM_024570.4(RNASEH2B):c.616+5del rs1951890362 0.00001
NM_024570.4(RNASEH2B):c.628C>T (p.Arg210Cys) rs769632378 0.00001
NM_024570.4(RNASEH2B):c.629G>A (p.Arg210His) rs755705496 0.00001
NM_024570.4(RNASEH2B):c.659T>C (p.Ile220Thr) rs747995413 0.00001
NM_024570.4(RNASEH2B):c.664A>G (p.Lys222Glu) rs746153565 0.00001
NM_024570.4(RNASEH2B):c.782A>T (p.Asp261Val) rs1307271194 0.00001
NM_024570.4(RNASEH2B):c.822+5G>A rs761333168 0.00001
NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu) rs1395602025 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024570.4(RNASEH2B):c.902T>C (p.Phe301Ser) rs780504013 0.00001
NM_024570.4(RNASEH2B):c.92T>C (p.Met31Thr) rs542600186 0.00001
NC_000013.10:g.(?_51528021)_(51530610_?)del
NC_000013.11:g.(?_50953885)_(50956494_?)del
NC_000013.11:g.50929475_50929477del
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_024570.4(RNASEH2B):c.*174C>T rs1952055649
NM_024570.4(RNASEH2B):c.*63G>T rs751735556
NM_024570.4(RNASEH2B):c.105_107del (p.Met36del) rs1566079047
NM_024570.4(RNASEH2B):c.121G>A (p.Val41Ile)
NM_024570.4(RNASEH2B):c.128C>A (p.Pro43His)
NM_024570.4(RNASEH2B):c.137-13T>G
NM_024570.4(RNASEH2B):c.137-4A>C
NM_024570.4(RNASEH2B):c.143G>A (p.Gly48Glu) rs1951648632
NM_024570.4(RNASEH2B):c.156G>T (p.Leu52Phe)
NM_024570.4(RNASEH2B):c.162T>A (p.Asn54Lys)
NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) rs1458407476
NM_024570.4(RNASEH2B):c.184G>A (p.Glu62Lys) rs2137933016
NM_024570.4(RNASEH2B):c.219G>T (p.Trp73Cys) rs1951650677
NM_024570.4(RNASEH2B):c.223A>G (p.Ile75Val)
NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg) rs1951651077
NM_024570.4(RNASEH2B):c.241T>G (p.Ser81Ala) rs1328842720
NM_024570.4(RNASEH2B):c.244+6T>C
NM_024570.4(RNASEH2B):c.248G>T (p.Gly83Val) rs1951668772
NM_024570.4(RNASEH2B):c.269C>G (p.Pro90Arg)
NM_024570.4(RNASEH2B):c.271G>A (p.Val91Met)
NM_024570.4(RNASEH2B):c.285del (p.Leu96fs) rs1566080738
NM_024570.4(RNASEH2B):c.286C>A (p.Leu96Met) rs2137938188
NM_024570.4(RNASEH2B):c.299A>G (p.Tyr100Cys)
NM_024570.4(RNASEH2B):c.321G>A (p.Glu107=)
NM_024570.4(RNASEH2B):c.322-17A>G
NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) rs1363440628
NM_024570.4(RNASEH2B):c.345A>C (p.Gln115His)
NM_024570.4(RNASEH2B):c.352G>T (p.Val118Leu)
NM_024570.4(RNASEH2B):c.361G>A (p.Val121Met) rs764980431
NM_024570.4(RNASEH2B):c.361G>T (p.Val121Leu) rs764980431
NM_024570.4(RNASEH2B):c.365T>G (p.Phe122Cys)
NM_024570.4(RNASEH2B):c.376A>G (p.Ile126Val) rs569343532
NM_024570.4(RNASEH2B):c.394C>A (p.Pro132Thr) rs780398368
NM_024570.4(RNASEH2B):c.405G>C (p.Glu135Asp) rs1951727784
NM_024570.4(RNASEH2B):c.436+6G>C
NM_024570.4(RNASEH2B):c.445G>C (p.Glu149Gln) rs770355902
NM_024570.4(RNASEH2B):c.448A>G (p.Ile150Val) rs1593470380
NM_024570.4(RNASEH2B):c.467A>G (p.Tyr156Cys)
NM_024570.4(RNASEH2B):c.476G>A (p.Ser159Asn) rs76219783
NM_024570.4(RNASEH2B):c.509del (p.Lys170fs) rs1085307091
NM_024570.4(RNASEH2B):c.510+3A>G rs1387848478
NM_024570.4(RNASEH2B):c.510+6G>T rs1951858134
NM_024570.4(RNASEH2B):c.510G>A (p.Lys170=) rs2137982984
NM_024570.4(RNASEH2B):c.511-22_511-20delinsGAA
NM_024570.4(RNASEH2B):c.520A>G (p.Thr174Ala)
NM_024570.4(RNASEH2B):c.521C>T (p.Thr174Ile) rs902917241
NM_024570.4(RNASEH2B):c.528A>G (p.Ala176=) rs768340427
NM_024570.4(RNASEH2B):c.542A>G (p.Asn181Ser) rs1951888592
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.556A>G (p.Ser186Gly)
NM_024570.4(RNASEH2B):c.565G>T (p.Val189Leu) rs1951889253
NM_024570.4(RNASEH2B):c.575C>T (p.Thr192Ile)
NM_024570.4(RNASEH2B):c.577G>A (p.Ala193Thr) rs2137990955
NM_024570.4(RNASEH2B):c.580T>C (p.Phe194Leu)
NM_024570.4(RNASEH2B):c.589G>T (p.Gly197Cys) rs745471919
NM_024570.4(RNASEH2B):c.598G>A (p.Ala200Thr)
NM_024570.4(RNASEH2B):c.601T>C (p.Ser201Pro) rs2137991056
NM_024570.4(RNASEH2B):c.607G>C (p.Asp203His)
NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) rs1951889997
NM_024570.4(RNASEH2B):c.616+2dup
NM_024570.4(RNASEH2B):c.618G>T (p.Glu206Asp)
NM_024570.4(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) rs1593474848
NM_024570.4(RNASEH2B):c.623A>G (p.Tyr208Cys) rs2138000084
NM_024570.4(RNASEH2B):c.631T>C (p.Tyr211His) rs1951926945
NM_024570.4(RNASEH2B):c.638A>G (p.His213Arg) rs200648780
NM_024570.4(RNASEH2B):c.639T>A (p.His213Gln) rs1265842301
NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) rs977521667
NM_024570.4(RNASEH2B):c.655T>C (p.Tyr219His) rs77391331
NM_024570.4(RNASEH2B):c.677A>T (p.Asp226Val)
NM_024570.4(RNASEH2B):c.685T>C (p.Ser229Pro) rs768565639
NM_024570.4(RNASEH2B):c.699-11A>G rs886050290
NM_024570.4(RNASEH2B):c.699-9C>G rs2138005108
NM_024570.4(RNASEH2B):c.715G>T (p.Ala239Ser)
NM_024570.4(RNASEH2B):c.719C>T (p.Ser240Leu) rs372632599
NM_024570.4(RNASEH2B):c.723G>C (p.Leu241Phe)
NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) rs748052389
NM_024570.4(RNASEH2B):c.741+6A>G
NM_024570.4(RNASEH2B):c.742-9A>G rs1952008392
NM_024570.4(RNASEH2B):c.767T>C (p.Val256Ala)
NM_024570.4(RNASEH2B):c.77A>G (p.Asp26Gly) rs1951613237
NM_024570.4(RNASEH2B):c.79G>A (p.Ala27Thr)
NM_024570.4(RNASEH2B):c.827dup (p.Asn276fs) rs746868812
NM_024570.4(RNASEH2B):c.838A>C (p.Thr280Pro) rs2138027194
NM_024570.4(RNASEH2B):c.849G>C (p.Gln283His)
NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) rs776706264
NM_024570.4(RNASEH2B):c.890T>C (p.Ile297Thr)
NM_024570.4(RNASEH2B):c.911A>T (p.Lys304Ile)
NM_024570.4(RNASEH2B):c.913A>C (p.Asn305His) rs2138027653
NM_024570.4(RNASEH2B):c.914dup (p.Asn305fs)
NM_024570.4(RNASEH2B):c.915_918del (p.Asn305fs) rs2138027647
NM_024570.4(RNASEH2B):c.924_925dup (p.Ile309fs) rs75254367
NM_024570.4(RNASEH2B):c.929del (p.Gly310fs) rs1952051723

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