ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 4

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 200
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.-49C>T rs375281767 0.00146
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_006397.3(RNASEH2A):c.374T>C (p.Ile125Thr) rs150008398 0.00041
NM_006397.3(RNASEH2A):c.*16G>T rs199696470 0.00038
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser) rs373169862 0.00021
NM_006397.3(RNASEH2A):c.653C>T (p.Ala218Val) rs112503877 0.00013
NM_006397.3(RNASEH2A):c.894C>A (p.Ser298Arg) rs760066036 0.00013
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006397.3(RNASEH2A):c.79G>C (p.Glu27Gln) rs770044946 0.00010
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_006397.3(RNASEH2A):c.455G>A (p.Arg152Gln) rs757486362 0.00007
NM_006397.3(RNASEH2A):c.126G>C (p.Leu42=) rs762363861 0.00006
NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly) rs749085589 0.00006
NM_006397.3(RNASEH2A):c.223G>C (p.Glu75Gln) rs753695101 0.00006
NM_006397.3(RNASEH2A):c.292C>G (p.Pro98Ala) rs767046465 0.00006
NM_006397.3(RNASEH2A):c.838C>T (p.Arg280Cys) rs375883546 0.00006
NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) rs764614950 0.00006
NM_006397.3(RNASEH2A):c.*68C>T rs564029348 0.00005
NM_006397.3(RNASEH2A):c.568G>A (p.Val190Met) rs370225385 0.00005
NM_006397.3(RNASEH2A):c.175G>C (p.Asp59His) rs766343269 0.00004
NM_006397.3(RNASEH2A):c.198A>T (p.Ala66=) rs767723275 0.00004
NM_006397.3(RNASEH2A):c.518C>T (p.Pro173Leu) rs369355807 0.00004
NM_006397.3(RNASEH2A):c.638-3C>T rs780614048 0.00004
NM_006397.3(RNASEH2A):c.*50T>C rs199822158 0.00003
NM_006397.3(RNASEH2A):c.407C>G (p.Thr136Ser) rs1459366188 0.00003
NM_006397.3(RNASEH2A):c.427G>A (p.Val143Ile) rs1033081366 0.00003
NM_006397.3(RNASEH2A):c.502G>T (p.Ala168Ser) rs772940870 0.00003
NM_006397.3(RNASEH2A):c.542G>A (p.Cys181Tyr) rs201041092 0.00003
NM_006397.3(RNASEH2A):c.715C>T (p.Arg239Cys) rs372667206 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.752A>G (p.Asp251Gly) rs768983249 0.00003
NM_006397.3(RNASEH2A):c.779A>G (p.Glu260Gly) rs770898096 0.00003
NM_006397.3(RNASEH2A):c.866T>G (p.Leu289Arg) rs745764952 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345 0.00003
NM_006397.3(RNASEH2A):c.425C>T (p.Thr142Ile) rs373008346 0.00002
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_006397.3(RNASEH2A):c.488C>T (p.Thr163Met) rs1046057251 0.00002
NM_006397.3(RNASEH2A):c.670G>A (p.Val224Met) rs775597355 0.00002
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp) rs773112247 0.00002
NM_006397.3(RNASEH2A):c.871C>T (p.Arg291Cys) rs771858022 0.00002
NM_006397.3(RNASEH2A):c.101A>G (p.Asp34Gly) rs762516714 0.00001
NM_006397.3(RNASEH2A):c.110G>A (p.Gly37Asp) rs11554405 0.00001
NM_006397.3(RNASEH2A):c.125T>C (p.Leu42Pro) rs1482633002 0.00001
NM_006397.3(RNASEH2A):c.135G>A (p.Met45Ile) rs1187283211 0.00001
NM_006397.3(RNASEH2A):c.142G>A (p.Ala48Thr) rs777734868 0.00001
NM_006397.3(RNASEH2A):c.169C>G (p.Leu57Val) rs775194617 0.00001
NM_006397.3(RNASEH2A):c.199+5G>T rs1969004135 0.00001
NM_006397.3(RNASEH2A):c.229G>A (p.Glu77Lys) rs771469429 0.00001
NM_006397.3(RNASEH2A):c.257C>T (p.Thr86Met) rs193084598 0.00001
NM_006397.3(RNASEH2A):c.284T>C (p.Val95Ala) rs754727728 0.00001
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.323+3G>A rs780523288 0.00001
NM_006397.3(RNASEH2A):c.32C>T (p.Thr11Ile) rs373265362 0.00001
NM_006397.3(RNASEH2A):c.332A>G (p.Tyr111Cys) rs1254142641 0.00001
NM_006397.3(RNASEH2A):c.34G>A (p.Gly12Ser) rs779298565 0.00001
NM_006397.3(RNASEH2A):c.361G>A (p.Ala121Thr) rs753384166 0.00001
NM_006397.3(RNASEH2A):c.378G>C (p.Gln126His) rs1182449523 0.00001
NM_006397.3(RNASEH2A):c.411+3G>C rs749477709 0.00001
NM_006397.3(RNASEH2A):c.439G>C (p.Glu147Gln) rs769486587 0.00001
NM_006397.3(RNASEH2A):c.452C>T (p.Ala151Val) rs369325444 0.00001
NM_006397.3(RNASEH2A):c.454C>T (p.Arg152Trp) rs942243073 0.00001
NM_006397.3(RNASEH2A):c.475G>A (p.Gly159Arg) rs746950188 0.00001
NM_006397.3(RNASEH2A):c.490G>A (p.Val164Ile) rs904903620 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.550G>A (p.Val184Met) rs777679893 0.00001
NM_006397.3(RNASEH2A):c.55C>G (p.Pro19Ala) rs1039519462 0.00001
NM_006397.3(RNASEH2A):c.569T>G (p.Val190Gly) rs1969055468 0.00001
NM_006397.3(RNASEH2A):c.5A>G (p.Asp2Gly) rs1489973272 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.65C>T (p.Ala22Val) rs768625813 0.00001
NM_006397.3(RNASEH2A):c.682T>C (p.Phe228Leu) rs1220751647 0.00001
NM_006397.3(RNASEH2A):c.728C>T (p.Thr243Ile) rs1969098175 0.00001
NM_006397.3(RNASEH2A):c.73C>T (p.Arg25Cys) rs546042666 0.00001
NM_006397.3(RNASEH2A):c.760T>C (p.Trp254Arg) rs757666508 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006397.3(RNASEH2A):c.778G>A (p.Glu260Lys) rs749242017 0.00001
NM_006397.3(RNASEH2A):c.800A>T (p.Lys267Met) rs1337243889 0.00001
NM_006397.3(RNASEH2A):c.803T>C (p.Ile268Thr) rs369098182 0.00001
NM_006397.3(RNASEH2A):c.828_831dup (p.Gln278fs) rs780583621 0.00001
NM_006397.3(RNASEH2A):c.839G>A (p.Arg280His) rs756346898 0.00001
NM_006397.3(RNASEH2A):c.844C>T (p.Arg282Cys) rs142642923 0.00001
NM_006397.3(RNASEH2A):c.851C>T (p.Ser284Phe) rs1474678539 0.00001
NC_000019.9:g.(?_12917488)_(13010355_?)dup
NC_000019.9:g.(?_12923877)_(12924280_?)del
NC_000019.9:g.(?_12923877)_(12924280_?)dup
NM_006397.3(RNASEH2A):c.*69G>A rs969808573
NM_006397.3(RNASEH2A):c.*93A>G rs528209678
NM_006397.3(RNASEH2A):c.-69G>A rs1968991813
NM_006397.3(RNASEH2A):c.113G>A (p.Arg38Lys) rs2145824177
NM_006397.3(RNASEH2A):c.115_116delinsCA (p.Gly39His) rs1968997110
NM_006397.3(RNASEH2A):c.119C>T (p.Pro40Leu) rs2145824200
NM_006397.3(RNASEH2A):c.125delinsCTAG (p.Leu42delinsProArg) rs1792077195
NM_006397.3(RNASEH2A):c.127G>C (p.Gly43Arg) rs1252576410
NM_006397.3(RNASEH2A):c.128G>T (p.Gly43Val) rs755133697
NM_006397.3(RNASEH2A):c.146_148dup (p.Ile49_Cys50insPhe) rs2145824522
NM_006397.3(RNASEH2A):c.160C>G (p.Leu54Val) rs771789854
NM_006397.3(RNASEH2A):c.166C>T (p.Arg56Cys) rs1969003412
NM_006397.3(RNASEH2A):c.167G>T (p.Arg56Leu) rs761841313
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.181_189del (p.Glu61_Leu63del) rs1969003682
NM_006397.3(RNASEH2A):c.196G>T (p.Ala66Ser) rs2145824584
NM_006397.3(RNASEH2A):c.199+12G>T
NM_006397.3(RNASEH2A):c.199+9G>T
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.217G>A (p.Glu73Lys)
NM_006397.3(RNASEH2A):c.219G>C (p.Glu73Asp) rs754532258
NM_006397.3(RNASEH2A):c.222C>A (p.Ser74Arg)
NM_006397.3(RNASEH2A):c.226C>T (p.Arg76Trp) rs1969006970
NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln) rs747608935
NM_006397.3(RNASEH2A):c.242C>G (p.Ala81Gly)
NM_006397.3(RNASEH2A):c.247A>G (p.Met83Val)
NM_006397.3(RNASEH2A):c.25G>A (p.Asp9Asn)
NM_006397.3(RNASEH2A):c.261C>G (p.Asp87Glu) rs776835503
NM_006397.3(RNASEH2A):c.268G>A (p.Gly90Ser) rs773318256
NM_006397.3(RNASEH2A):c.268G>T (p.Gly90Cys)
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly) rs76436818
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323G>A (p.Arg108Gln) rs1232764867
NM_006397.3(RNASEH2A):c.323G>C (p.Arg108Pro)
NM_006397.3(RNASEH2A):c.325G>A (p.Val109Ile)
NM_006397.3(RNASEH2A):c.337C>A (p.Leu113Met) rs1969010870
NM_006397.3(RNASEH2A):c.359C>T (p.Thr120Ile)
NM_006397.3(RNASEH2A):c.373A>C (p.Ile125Leu) rs1969011556
NM_006397.3(RNASEH2A):c.38G>T (p.Arg13Leu) rs1289383180
NM_006397.3(RNASEH2A):c.393G>C (p.Gln131His) rs2145825149
NM_006397.3(RNASEH2A):c.397G>A (p.Val133Met) rs1969012072
NM_006397.3(RNASEH2A):c.411+14A>G
NM_006397.3(RNASEH2A):c.412G>A (p.Val138Ile)
NM_006397.3(RNASEH2A):c.417C>A (p.Phe139Leu) rs201413125
NM_006397.3(RNASEH2A):c.418G>A (p.Val140Met)
NM_006397.3(RNASEH2A):c.422A>G (p.Asp141Gly) rs967836212
NM_006397.3(RNASEH2A):c.441G>T (p.Glu147Asp) rs772640456
NM_006397.3(RNASEH2A):c.445T>C (p.Tyr149His)
NM_006397.3(RNASEH2A):c.44G>A (p.Arg15His) rs1968995083
NM_006397.3(RNASEH2A):c.4G>T (p.Asp2Tyr)
NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) rs1262482666
NM_006397.3(RNASEH2A):c.523G>A (p.Val175Ile)
NM_006397.3(RNASEH2A):c.528T>A (p.Ser176Arg) rs1419883149
NM_006397.3(RNASEH2A):c.530C>T (p.Ala177Val) rs2145827698
NM_006397.3(RNASEH2A):c.539T>A (p.Ile180Asn)
NM_006397.3(RNASEH2A):c.549+4A>G
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006397.3(RNASEH2A):c.566C>A (p.Ala189Asp) rs1448707577
NM_006397.3(RNASEH2A):c.569T>C (p.Val190Ala) rs1969055468
NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) rs748699424
NM_006397.3(RNASEH2A):c.586G>A (p.Val196Met)
NM_006397.3(RNASEH2A):c.592A>G (p.Lys198Glu) rs2145827897
NM_006397.3(RNASEH2A):c.611C>A (p.Thr204Asn)
NM_006397.3(RNASEH2A):c.611C>T (p.Thr204Ile)
NM_006397.3(RNASEH2A):c.613G>T (p.Asp205Tyr) rs965949988
NM_006397.3(RNASEH2A):c.622T>C (p.Ser208Pro) rs2145827947
NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) rs1568387884
NM_006397.3(RNASEH2A):c.635A>G (p.Asn212Ser) rs377244188
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.636T>C (p.Asn212=) rs2145827969
NM_006397.3(RNASEH2A):c.637+12C>G
NM_006397.3(RNASEH2A):c.637+3G>A rs1399243066
NM_006397.3(RNASEH2A):c.665A>T (p.Glu222Val)
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.701T>G (p.Val234Gly)
NM_006397.3(RNASEH2A):c.705del (p.Phe236fs)
NM_006397.3(RNASEH2A):c.73C>G (p.Arg25Gly)
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006397.3(RNASEH2A):c.749A>C (p.Glu250Ala) rs1157218789
NM_006397.3(RNASEH2A):c.74G>A (p.Arg25His) rs955631391
NM_006397.3(RNASEH2A):c.74G>T (p.Arg25Leu) rs955631391
NM_006397.3(RNASEH2A):c.757A>G (p.Ile253Val)
NM_006397.3(RNASEH2A):c.759A>G (p.Ile253Met)
NM_006397.3(RNASEH2A):c.762-14C>G rs1297237306
NM_006397.3(RNASEH2A):c.764A>C (p.Glu255Ala)
NM_006397.3(RNASEH2A):c.773C>T (p.Ala258Val)
NM_006397.3(RNASEH2A):c.791G>A (p.Gly264Glu)
NM_006397.3(RNASEH2A):c.80A>G (p.Glu27Gly)
NM_006397.3(RNASEH2A):c.833A>C (p.Gln278Pro)
NM_006397.3(RNASEH2A):c.836C>G (p.Ala279Gly) rs2145830509
NM_006397.3(RNASEH2A):c.838C>A (p.Arg280Ser)
NM_006397.3(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452
NM_006397.3(RNASEH2A):c.848C>G (p.Ser283Cys)
NM_006397.3(RNASEH2A):c.854A>C (p.His285Pro)
NM_006397.3(RNASEH2A):c.855C>G (p.His285Gln) rs1568388876
NM_006397.3(RNASEH2A):c.856C>T (p.Arg286Ter) rs1286615636
NM_006397.3(RNASEH2A):c.857G>T (p.Arg286Leu)
NM_006397.3(RNASEH2A):c.866del (p.Leu289fs) rs1969104623
NM_006397.3(RNASEH2A):c.869A>T (p.Glu290Val) rs1425963270
NM_006397.3(RNASEH2A):c.872G>T (p.Arg291Leu) rs75037667
NM_006397.3(RNASEH2A):c.874G>C (p.Gly292Arg)
NM_006397.3(RNASEH2A):c.881A>G (p.Glu294Gly) rs2145830589
NM_006397.3(RNASEH2A):c.883T>A (p.Ser295Thr) rs1438193575
NM_006397.3(RNASEH2A):c.884C>T (p.Ser295Leu) rs1969105528
NM_006397.3(RNASEH2A):c.886G>A (p.Ala296Thr) rs1243574081
NM_006397.3(RNASEH2A):c.889A>G (p.Thr297Ala) rs775006544
NM_006397.3(RNASEH2A):c.8T>C (p.Leu3Pro)
NM_006397.3(RNASEH2A):c.94G>A (p.Gly32Ser)

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