ClinVar Miner

List of variants in gene SAMHD1 reported as uncertain significance for Aicardi-Goutieres syndrome 5

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112 0.00041
NM_015474.4(SAMHD1):c.-31T>C rs142162198 0.00038
NM_015474.4(SAMHD1):c.-39C>A rs368233437 0.00038
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072 0.00012
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys) rs199896513 0.00009
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) rs147891080 0.00009
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln) rs775762131 0.00007
NM_015474.4(SAMHD1):c.-10A>G rs199721283 0.00006
NM_015474.4(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799 0.00006
NM_015474.4(SAMHD1):c.1492T>A (p.Phe498Ile) rs145323435 0.00004
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=) rs767971429 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015474.4(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563 0.00003
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp) rs202019609 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_015474.4(SAMHD1):c.1391G>T (p.Gly464Val) rs751309562 0.00002
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404 0.00002
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met) rs529220118 0.00002
NM_015474.4(SAMHD1):c.17C>T (p.Ser6Phe) rs780617865 0.00002
NM_015474.4(SAMHD1):c.443A>G (p.Lys148Arg) rs761306482 0.00002
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) rs747675634 0.00002
NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys) rs962672070 0.00001
NM_015474.4(SAMHD1):c.1016G>A (p.Arg339His) rs201250022 0.00001
NM_015474.4(SAMHD1):c.101C>G (p.Pro34Arg) rs2063734567 0.00001
NM_015474.4(SAMHD1):c.1033A>G (p.Asn345Asp) rs1232169509 0.00001
NM_015474.4(SAMHD1):c.1034A>G (p.Asn345Ser) rs1273114275 0.00001
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys) rs761561066 0.00001
NM_015474.4(SAMHD1):c.1136G>A (p.Gly379Asp) rs773888401 0.00001
NM_015474.4(SAMHD1):c.1193A>G (p.Glu398Gly) rs916801950 0.00001
NM_015474.4(SAMHD1):c.1199C>T (p.Thr400Ile) rs759140727 0.00001
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys) rs776994886 0.00001
NM_015474.4(SAMHD1):c.1223G>A (p.Arg408His) rs140417977 0.00001
NM_015474.4(SAMHD1):c.1247T>A (p.Met416Lys) rs745950444 0.00001
NM_015474.4(SAMHD1):c.1258A>T (p.Thr420Ser) rs754153159 0.00001
NM_015474.4(SAMHD1):c.1259C>G (p.Thr420Ser) rs1233436073 0.00001
NM_015474.4(SAMHD1):c.1321G>A (p.Ala441Thr) rs1311797673 0.00001
NM_015474.4(SAMHD1):c.143A>G (p.Glu48Gly) rs145360072 0.00001
NM_015474.4(SAMHD1):c.1444A>G (p.Ser482Gly) rs1451618642 0.00001
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser) rs886645360 0.00001
NM_015474.4(SAMHD1):c.1499T>G (p.Val500Gly) rs747437917 0.00001
NM_015474.4(SAMHD1):c.1597A>G (p.Thr533Ala) rs770504610 0.00001
NM_015474.4(SAMHD1):c.1688A>G (p.Tyr563Cys) rs6130037 0.00001
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) rs779491090 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.173G>A (p.Gly58Asp) rs1568788278 0.00001
NM_015474.4(SAMHD1):c.1742C>T (p.Pro581Leu) rs752755786 0.00001
NM_015474.4(SAMHD1):c.188T>G (p.Val63Gly) rs768245328 0.00001
NM_015474.4(SAMHD1):c.19G>A (p.Glu7Lys) rs765628260 0.00001
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser) rs141599277 0.00001
NM_015474.4(SAMHD1):c.244G>A (p.Asp82Asn) rs751790128 0.00001
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His) rs1274894909 0.00001
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys) rs758586131 0.00001
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly) rs1235922763 0.00001
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys) rs1306109528 0.00001
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr) rs1455837248 0.00001
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln) rs781223072 0.00001
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe) rs1053324143 0.00001
NM_015474.4(SAMHD1):c.624C>T (p.Leu208=) rs764763884 0.00001
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=) rs763408711 0.00001
NM_015474.4(SAMHD1):c.728A>C (p.His243Pro) rs757614478 0.00001
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val) rs754150741 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_015474.4(SAMHD1):c.852+6T>C rs1360565476 0.00001
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu) rs551472065 0.00001
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu) rs1300702859 0.00001
NM_015474.4(SAMHD1):c.984T>G (p.Asn328Lys) rs1351629453 0.00001
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His) rs755046462 0.00001
NC_000020.10:g.(?_35526205)_(35580046_?)dup
NC_000020.10:g.(?_35539601)_(35580066_?)dup
NC_000020.10:g.(?_35545105)_(35547942_?)del
NC_000020.10:g.(?_35547747)_(35547942_?)del
NC_000020.10:g.(?_35559143)_(35575227_?)dup
NC_000020.10:g.(?_35563412)_(35569534_?)del
NC_000020.10:g.(?_35563412)_(35580046_?)dup
NC_000020.11:g.36904246CCT[1]
NM_015474.4(SAMHD1):c.1009T>C (p.Phe337Leu) rs2146116896
NM_015474.4(SAMHD1):c.1012G>T (p.Ala338Ser)
NM_015474.4(SAMHD1):c.101C>T (p.Pro34Leu) rs2063734567
NM_015474.4(SAMHD1):c.1024G>A (p.Glu342Lys)
NM_015474.4(SAMHD1):c.1030G>A (p.Asp344Asn)
NM_015474.4(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.4(SAMHD1):c.104G>A (p.Gly35Asp) rs751026561
NM_015474.4(SAMHD1):c.104G>T (p.Gly35Val)
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn) rs546930607
NM_015474.4(SAMHD1):c.1086G>A (p.Met362Ile) rs2148365764
NM_015474.4(SAMHD1):c.1093A>G (p.Thr365Ala) rs1478441405
NM_015474.4(SAMHD1):c.1094C>A (p.Thr365Asn) rs2063446998
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys) rs138089277
NM_015474.4(SAMHD1):c.1111C>T (p.Arg371Cys) rs774991764
NM_015474.4(SAMHD1):c.1130A>G (p.Lys377Arg)
NM_015474.4(SAMHD1):c.1141A>G (p.Ile381Val)
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1154+4A>T
NM_015474.4(SAMHD1):c.1155-7T>G rs563734052
NM_015474.4(SAMHD1):c.1160C>T (p.Thr387Ile) rs2063439054
NM_015474.4(SAMHD1):c.1163A>G (p.Asp388Gly)
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu) rs1338752164
NM_015474.4(SAMHD1):c.119C>T (p.Pro40Leu)
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val) rs755673943
NM_015474.4(SAMHD1):c.1201G>A (p.Gly401Ser) rs2063438570
NM_015474.4(SAMHD1):c.1208_1209delinsAT (p.Gly403Asp) rs2148364990
NM_015474.4(SAMHD1):c.1216A>C (p.Lys406Gln)
NM_015474.4(SAMHD1):c.121G>T (p.Asp41Tyr) rs2063734469
NM_015474.4(SAMHD1):c.1229C>T (p.Ser410Phe)
NM_015474.4(SAMHD1):c.1238T>C (p.Ile413Thr) rs1444630318
NM_015474.4(SAMHD1):c.1243G>A (p.Asp415Asn)
NM_015474.4(SAMHD1):c.1246A>G (p.Met416Val)
NM_015474.4(SAMHD1):c.124_126del (p.Tyr42del)
NM_015474.4(SAMHD1):c.1265T>A (p.Leu422Gln)
NM_015474.4(SAMHD1):c.1270G>C (p.Asp424His)
NM_015474.4(SAMHD1):c.1271-3C>T
NM_015474.4(SAMHD1):c.1271-5G>A rs2063399774
NM_015474.4(SAMHD1):c.1291T>A (p.Leu431Ile) rs2148360629
NM_015474.4(SAMHD1):c.130_134del (p.Thr44fs) rs2063734360
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro) rs1311797673
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1329G>T (p.Glu443Asp)
NM_015474.4(SAMHD1):c.1379C>T (p.Thr460Met)
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr) rs1215408383
NM_015474.4(SAMHD1):c.1391G>A (p.Gly464Glu) rs751309562
NM_015474.4(SAMHD1):c.139C>G (p.Pro47Ala)
NM_015474.4(SAMHD1):c.1401_1406del (p.466IK[1])
NM_015474.4(SAMHD1):c.1410+12G>T rs2063398513
NM_015474.4(SAMHD1):c.1410+4A>C
NM_015474.4(SAMHD1):c.1410+5G>T rs1601119476
NM_015474.4(SAMHD1):c.1442C>T (p.Ala481Val)
NM_015474.4(SAMHD1):c.1445G>C (p.Ser482Thr)
NM_015474.4(SAMHD1):c.1447G>A (p.Ala483Thr)
NM_015474.4(SAMHD1):c.1457A>G (p.Lys486Arg)
NM_015474.4(SAMHD1):c.1459G>A (p.Val487Ile) rs2148359709
NM_015474.4(SAMHD1):c.1475A>C (p.Lys492Thr)
NM_015474.4(SAMHD1):c.147G>C (p.Gln49His)
NM_015474.4(SAMHD1):c.1483G>C (p.Ala495Pro) rs2063392360
NM_015474.4(SAMHD1):c.1503+3A>C
NM_015474.4(SAMHD1):c.1511A>C (p.Asn504Thr) rs1990240962
NM_015474.4(SAMHD1):c.1523G>A (p.Gly508Glu) rs1363652608
NM_015474.4(SAMHD1):c.1536G>C (p.Lys512Asn) rs999709360
NM_015474.4(SAMHD1):c.1536G>T (p.Lys512Asn)
NM_015474.4(SAMHD1):c.1537A>C (p.Asn513His)
NM_015474.4(SAMHD1):c.1543A>G (p.Ile515Val)
NM_015474.4(SAMHD1):c.1547A>G (p.Asp516Gly)
NM_015474.4(SAMHD1):c.1552G>A (p.Val518Ile)
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr) rs1046544176
NM_015474.4(SAMHD1):c.1580A>G (p.Asn527Ser)
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met) rs1354357820
NM_015474.4(SAMHD1):c.1593G>T (p.Arg531Ser)
NM_015474.4(SAMHD1):c.1598C>T (p.Thr533Ile) rs2148355946
NM_015474.4(SAMHD1):c.1603A>T (p.Asn535Tyr) rs2148355943
NM_015474.4(SAMHD1):c.1608+6T>A rs747508625
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1618C>T (p.Leu540Phe)
NM_015474.4(SAMHD1):c.1632A>C (p.Lys544Asn)
NM_015474.4(SAMHD1):c.1634T>G (p.Phe545Cys) rs1401777461
NM_015474.4(SAMHD1):c.1639G>A (p.Glu547Lys) rs2148355589
NM_015474.4(SAMHD1):c.1648A>T (p.Ile550Phe)
NM_015474.4(SAMHD1):c.1652G>A (p.Arg551Gln)
NM_015474.4(SAMHD1):c.1657T>G (p.Tyr553Asp) rs1442543580
NM_015474.4(SAMHD1):c.1658A>G (p.Tyr553Cys) rs2148355563
NM_015474.4(SAMHD1):c.1661G>A (p.Cys554Tyr)
NM_015474.4(SAMHD1):c.1670T>G (p.Val557Gly) rs769234037
NM_015474.4(SAMHD1):c.1674C>G (p.Asp558Glu) rs1252711773
NM_015474.4(SAMHD1):c.1679A>G (p.Lys560Arg)
NM_015474.4(SAMHD1):c.1681_1682del (p.Ser561fs)
NM_015474.4(SAMHD1):c.169G>C (p.Gly57Arg)
NM_015474.4(SAMHD1):c.16T>A (p.Ser6Thr) rs1187125859
NM_015474.4(SAMHD1):c.16T>G (p.Ser6Ala) rs1187125859
NM_015474.4(SAMHD1):c.1705T>A (p.Phe569Ile) rs2148355522
NM_015474.4(SAMHD1):c.1711C>A (p.Gln571Lys) rs1990225699
NM_015474.4(SAMHD1):c.1711C>T (p.Gln571Ter)
NM_015474.4(SAMHD1):c.1720G>A (p.Ala574Thr)
NM_015474.4(SAMHD1):c.1723G>A (p.Asp575Asn) rs1990225210
NM_015474.4(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.4(SAMHD1):c.1739A>G (p.Lys580Arg) rs1255928710
NM_015474.4(SAMHD1):c.1739A>T (p.Lys580Met)
NM_015474.4(SAMHD1):c.1746+4G>A
NM_015474.4(SAMHD1):c.1746+4_1746+15del rs1568758975
NM_015474.4(SAMHD1):c.184C>T (p.Pro62Ser) rs2146160495
NM_015474.4(SAMHD1):c.194T>G (p.Leu65Arg) rs2146160474
NM_015474.4(SAMHD1):c.200A>G (p.Asn67Ser) rs2063733948
NM_015474.4(SAMHD1):c.208+4G>A rs1273248542
NM_015474.4(SAMHD1):c.211A>T (p.Asn71Tyr)
NM_015474.4(SAMHD1):c.226G>A (p.Ala76Thr) rs141599277
NM_015474.4(SAMHD1):c.23A>G (p.Gln8Arg) rs149797357
NM_015474.4(SAMHD1):c.245A>G (p.Asp82Gly)
NM_015474.4(SAMHD1):c.249G>T (p.Glu83Asp) rs2063689102
NM_015474.4(SAMHD1):c.253C>T (p.Arg85Cys)
NM_015474.4(SAMHD1):c.274A>G (p.Ser92Gly)
NM_015474.4(SAMHD1):c.284G>C (p.Gly95Ala) rs1277922979
NM_015474.4(SAMHD1):c.284G>T (p.Gly95Val)
NM_015474.4(SAMHD1):c.289A>G (p.Arg97Gly)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.308A>G (p.Tyr103Cys)
NM_015474.4(SAMHD1):c.335T>C (p.Val112Ala)
NM_015474.4(SAMHD1):c.343A>C (p.Met115Leu)
NM_015474.4(SAMHD1):c.349G>A (p.Val117Ile)
NM_015474.4(SAMHD1):c.35G>A (p.Arg12His) rs2146161012
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val) rs757367080
NM_015474.4(SAMHD1):c.397G>A (p.Val133Ile)
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly) rs752442185
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)
NM_015474.4(SAMHD1):c.427C>A (p.Arg143Ser)
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg) rs775844501
NM_015474.4(SAMHD1):c.457G>A (p.Gly153Ser)
NM_015474.4(SAMHD1):c.46G>T (p.Asp16Tyr) rs200703816
NM_015474.4(SAMHD1):c.491G>A (p.Arg164Gln)
NM_015474.4(SAMHD1):c.49G>A (p.Asp17Asn)
NM_015474.4(SAMHD1):c.503G>T (p.Ser168Ile) rs2146137354
NM_015474.4(SAMHD1):c.511G>T (p.Val171Leu) rs2063564236
NM_015474.4(SAMHD1):c.521T>A (p.Leu174Gln) rs2146132117
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.548G>C (p.Gly183Ala)
NM_015474.4(SAMHD1):c.559C>A (p.Pro187Thr) rs2146132053
NM_015474.4(SAMHD1):c.55C>T (p.Pro19Ser) rs2146160927
NM_015474.4(SAMHD1):c.565C>G (p.Leu189Val) rs2146132029
NM_015474.4(SAMHD1):c.56C>G (p.Pro19Arg) rs1308458054
NM_015474.4(SAMHD1):c.571A>C (p.Ile191Leu) rs1303667371
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.599A>G (p.Gln200Arg)
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup) rs758547160
NM_015474.4(SAMHD1):c.605C>T (p.Ala202Val) rs1568776699
NM_015474.4(SAMHD1):c.616C>T (p.His206Tyr)
NM_015474.4(SAMHD1):c.626G>A (p.Gly209Asp)
NM_015474.4(SAMHD1):c.62C>T (p.Thr21Ile) rs760912458
NM_015474.4(SAMHD1):c.631G>A (p.Gly211Arg)
NM_015474.4(SAMHD1):c.644A>C (p.His215Pro) rs772029258
NM_015474.4(SAMHD1):c.650T>C (p.Phe217Ser) rs2146127793
NM_015474.4(SAMHD1):c.659G>A (p.Arg220Gln)
NM_015474.4(SAMHD1):c.667C>T (p.Pro223Ser) rs1235181942
NM_015474.4(SAMHD1):c.668C>T (p.Pro223Leu) rs1601138159
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.676C>T (p.Arg226Cys) rs778647626
NM_015474.4(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu) rs753391551
NM_015474.4(SAMHD1):c.682G>C (p.Glu228Gln)
NM_015474.4(SAMHD1):c.689A>G (p.Lys230Arg)
NM_015474.4(SAMHD1):c.695C>T (p.Thr232Met)
NM_015474.4(SAMHD1):c.696+5G>A rs1468637736
NM_015474.4(SAMHD1):c.696G>A (p.Thr232=)
NM_015474.4(SAMHD1):c.70A>G (p.Asn24Asp) rs2146160848
NM_015474.4(SAMHD1):c.715ATG[1] (p.Met240del)
NM_015474.4(SAMHD1):c.726G>C (p.Glu242Asp) rs1239766590
NM_015474.4(SAMHD1):c.766C>A (p.Gln256Lys)
NM_015474.4(SAMHD1):c.76C>T (p.Pro26Ser) rs2146160814
NM_015474.4(SAMHD1):c.793A>G (p.Ile265Val)
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
NM_015474.4(SAMHD1):c.80C>T (p.Ser27Phe)
NM_015474.4(SAMHD1):c.815T>C (p.Ile272Thr)
NM_015474.4(SAMHD1):c.817G>T (p.Val273Leu)
NM_015474.4(SAMHD1):c.821G>A (p.Gly274Glu) rs2063492690
NM_015474.4(SAMHD1):c.82G>A (p.Ala28Thr)
NM_015474.4(SAMHD1):c.847T>G (p.Ser283Ala) rs2146119399
NM_015474.4(SAMHD1):c.852G>A (p.Leu284=) rs2146119382
NM_015474.4(SAMHD1):c.87G>T (p.Glu29Asp) rs1451769476
NM_015474.4(SAMHD1):c.883A>G (p.Ser295Gly) rs2146117130
NM_015474.4(SAMHD1):c.888C>T (p.Phe296=)
NM_015474.4(SAMHD1):c.889C>G (p.Leu297Val) rs774197667
NM_015474.4(SAMHD1):c.88G>T (p.Ala30Ser)
NM_015474.4(SAMHD1):c.899T>C (p.Ile300Thr)
NM_015474.4(SAMHD1):c.933C>T (p.Asp311=) rs2063480136
NM_015474.4(SAMHD1):c.94T>C (p.Trp32Arg)
NM_015474.4(SAMHD1):c.951C>T (p.Ala317=)
NM_015474.4(SAMHD1):c.953G>A (p.Arg318Lys)
NM_015474.4(SAMHD1):c.957C>G (p.Asp319Glu)
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_015474.4(SAMHD1):c.998G>T (p.Arg333Leu)

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