ClinVar Miner

List of variants reported as likely benign for Aicardi-Goutieres syndrome 5 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 391
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777 0.00252
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=) rs149267802 0.00039
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=) rs140804613 0.00034
NM_015474.4(SAMHD1):c.1411-18G>A rs373910542 0.00029
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile) rs144353824 0.00029
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.1320C>T (p.Asp440=) rs371992324 0.00009
NM_015474.4(SAMHD1):c.696+14C>T rs145884935 0.00009
NM_015474.4(SAMHD1):c.697-13T>C rs368766286 0.00008
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=) rs374642075 0.00007
NM_015474.4(SAMHD1):c.1812C>A (p.Val604=) rs139841806 0.00006
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=) rs149098281 0.00006
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=) rs757642528 0.00005
NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=) rs372533307 0.00005
NM_080628.3(TLDC2):c.*239dup rs762361576 0.00005
NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=) rs151189478 0.00004
NM_015474.4(SAMHD1):c.208+8C>T rs543987630 0.00004
NM_015474.4(SAMHD1):c.349-18T>C rs372746139 0.00004
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=) rs754519810 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015474.4(SAMHD1):c.534A>C (p.Leu178=) rs771148482 0.00003
NM_015474.4(SAMHD1):c.795T>C (p.Ile265=) rs770681043 0.00003
NM_015474.4(SAMHD1):c.90A>C (p.Ala30=) rs780812058 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_015474.4(SAMHD1):c.1063-6C>T rs751597956 0.00002
NM_015474.4(SAMHD1):c.1224C>A (p.Arg408=) rs963896466 0.00002
NM_015474.4(SAMHD1):c.1359A>G (p.Leu453=) rs142183953 0.00002
NM_015474.4(SAMHD1):c.209-4A>G rs961575949 0.00002
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=) rs760417947 0.00002
NM_015474.4(SAMHD1):c.384C>T (p.Leu128=) rs756023341 0.00002
NM_015474.4(SAMHD1):c.897G>A (p.Glu299=) rs766301679 0.00002
NM_015474.4(SAMHD1):c.1125A>G (p.Gln375=) rs201876333 0.00001
NM_015474.4(SAMHD1):c.1154+9C>T rs377745198 0.00001
NM_015474.4(SAMHD1):c.120C>T (p.Pro40=) rs1164431300 0.00001
NM_015474.4(SAMHD1):c.1257T>C (p.Tyr419=) rs1441301586 0.00001
NM_015474.4(SAMHD1):c.126C>T (p.Tyr42=) rs754233641 0.00001
NM_015474.4(SAMHD1):c.1270+17A>G rs2063437409 0.00001
NM_015474.4(SAMHD1):c.1350C>T (p.Tyr450=) rs537446646 0.00001
NM_015474.4(SAMHD1):c.1368T>C (p.Tyr456=) rs769561543 0.00001
NM_015474.4(SAMHD1):c.1380G>A (p.Thr460=) rs544083526 0.00001
NM_015474.4(SAMHD1):c.144G>A (p.Glu48=) rs140157384 0.00001
NM_015474.4(SAMHD1):c.1455C>G (p.Pro485=) rs879334178 0.00001
NM_015474.4(SAMHD1):c.1503+16A>G rs1287287488 0.00001
NM_015474.4(SAMHD1):c.1518T>C (p.Asp506=) rs1300340729 0.00001
NM_015474.4(SAMHD1):c.153C>T (p.Cys51=) rs774247016 0.00001
NM_015474.4(SAMHD1):c.1609-17C>A rs1260090439 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=) rs150658755 0.00001
NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=) rs753611896 0.00001
NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=) rs1449037659 0.00001
NM_015474.4(SAMHD1):c.204C>T (p.Ile68=) rs2063733926 0.00001
NM_015474.4(SAMHD1):c.208+16G>A rs778400853 0.00001
NM_015474.4(SAMHD1):c.275+15A>C rs2063688866 0.00001
NM_015474.4(SAMHD1):c.288G>A (p.Glu96=) rs780159863 0.00001
NM_015474.4(SAMHD1):c.300G>A (p.Leu100=) rs1045346655 0.00001
NM_015474.4(SAMHD1):c.333C>T (p.His111=) rs1396545191 0.00001
NM_015474.4(SAMHD1):c.348+9A>T rs2063640460 0.00001
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=) rs1216724127 0.00001
NM_015474.4(SAMHD1):c.448C>T (p.Leu150=) rs1404231193 0.00001
NM_015474.4(SAMHD1):c.510-17G>A rs1555835836 0.00001
NM_015474.4(SAMHD1):c.510-7T>C rs1033373260 0.00001
NM_015474.4(SAMHD1):c.513G>T (p.Val171=) rs903077482 0.00001
NM_015474.4(SAMHD1):c.537T>A (p.Val179=) rs749581263 0.00001
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=) rs748150321 0.00001
NM_015474.4(SAMHD1):c.567G>A (p.Leu189=) rs947611800 0.00001
NM_015474.4(SAMHD1):c.57G>A (p.Pro19=) rs1032186742 0.00001
NM_015474.4(SAMHD1):c.626-5T>C rs768848252 0.00001
NM_015474.4(SAMHD1):c.626-9G>C rs1371988530 0.00001
NM_015474.4(SAMHD1):c.63C>T (p.Thr21=) rs775849448 0.00001
NM_015474.4(SAMHD1):c.681G>A (p.Pro227=) rs144587056 0.00001
NM_015474.4(SAMHD1):c.786A>G (p.Glu262=) rs1195297197 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_015474.4(SAMHD1):c.9A>G (p.Arg3=) rs1568788547 0.00001
NM_015474.4(SAMHD1):c.1014C>T (p.Ala338=) rs1238026198
NM_015474.4(SAMHD1):c.1020C>T (p.Val340=)
NM_015474.4(SAMHD1):c.1023T>C (p.Cys341=) rs2146116863
NM_015474.4(SAMHD1):c.1026A>G (p.Glu342=)
NM_015474.4(SAMHD1):c.102G>T (p.Pro34=)
NM_015474.4(SAMHD1):c.1038G>A (p.Glu346=)
NM_015474.4(SAMHD1):c.1050T>C (p.Cys350=) rs1601130032
NM_015474.4(SAMHD1):c.1053T>G (p.Ala351=)
NM_015474.4(SAMHD1):c.1062+12C>T
NM_015474.4(SAMHD1):c.1062+14G>C
NM_015474.4(SAMHD1):c.1062+17G>A rs375919445
NM_015474.4(SAMHD1):c.1062+19G>C
NM_015474.4(SAMHD1):c.1062+7T>C rs2146116764
NM_015474.4(SAMHD1):c.1062+8G>A
NM_015474.4(SAMHD1):c.1063-13T>C
NM_015474.4(SAMHD1):c.1063-15C>A
NM_015474.4(SAMHD1):c.1063-16T>G
NM_015474.4(SAMHD1):c.1063-4G>T rs2148365781
NM_015474.4(SAMHD1):c.1063-7C>T
NM_015474.4(SAMHD1):c.108G>A (p.Leu36=)
NM_015474.4(SAMHD1):c.111A>G (p.Glu37=) rs779493555
NM_015474.4(SAMHD1):c.1122T>C (p.Tyr374=) rs1255201901
NM_015474.4(SAMHD1):c.1143T>C (p.Ile381=)
NM_015474.4(SAMHD1):c.1154+12G>A
NM_015474.4(SAMHD1):c.1154+12G>T
NM_015474.4(SAMHD1):c.1154+13A>G rs2148365673
NM_015474.4(SAMHD1):c.1154+14T>C
NM_015474.4(SAMHD1):c.1154+15T>G
NM_015474.4(SAMHD1):c.1155-16G>A
NM_015474.4(SAMHD1):c.1155-8A>C
NM_015474.4(SAMHD1):c.1161A>C (p.Thr387=)
NM_015474.4(SAMHD1):c.1161A>G (p.Thr387=)
NM_015474.4(SAMHD1):c.1173C>T (p.Leu391=)
NM_015474.4(SAMHD1):c.1179A>G (p.Ala393=)
NM_015474.4(SAMHD1):c.1185C>T (p.Asp395=) rs2148365039
NM_015474.4(SAMHD1):c.1194G>A (p.Glu398=) rs2148365027
NM_015474.4(SAMHD1):c.1200A>G (p.Thr400=) rs773943611
NM_015474.4(SAMHD1):c.120C>G (p.Pro40=)
NM_015474.4(SAMHD1):c.1227T>A (p.Ile409=) rs2148364956
NM_015474.4(SAMHD1):c.1230T>C (p.Ser410=) rs2148364950
NM_015474.4(SAMHD1):c.1254C>T (p.Ala418=) rs2148364919
NM_015474.4(SAMHD1):c.1263G>A (p.Lys421=) rs1601124713
NM_015474.4(SAMHD1):c.1270+10A>G
NM_015474.4(SAMHD1):c.1270+20A>G
NM_015474.4(SAMHD1):c.1270+7A>T rs2148364885
NM_015474.4(SAMHD1):c.1271-13A>G rs2148360651
NM_015474.4(SAMHD1):c.1271-14C>G
NM_015474.4(SAMHD1):c.1271-14C>T
NM_015474.4(SAMHD1):c.1271-18A>C
NM_015474.4(SAMHD1):c.1275C>T (p.Asn425=) rs2148360636
NM_015474.4(SAMHD1):c.1293A>G (p.Leu431=)
NM_015474.4(SAMHD1):c.129G>A (p.Lys43=) rs1386913237
NM_015474.4(SAMHD1):c.12C>A (p.Ala4=) rs1356766255
NM_015474.4(SAMHD1):c.12C>G (p.Ala4=) rs1356766255
NM_015474.4(SAMHD1):c.12C>T (p.Ala4=) rs1356766255
NM_015474.4(SAMHD1):c.1302T>C (p.Thr434=) rs747247611
NM_015474.4(SAMHD1):c.1312T>C (p.Leu438=) rs2148360614
NM_015474.4(SAMHD1):c.1324C>A (p.Arg442=)
NM_015474.4(SAMHD1):c.1329G>A (p.Glu443=)
NM_015474.4(SAMHD1):c.132A>G (p.Thr44=)
NM_015474.4(SAMHD1):c.132A>T (p.Thr44=)
NM_015474.4(SAMHD1):c.1335A>G (p.Leu445=)
NM_015474.4(SAMHD1):c.1344T>C (p.Ile448=) rs746144991
NM_015474.4(SAMHD1):c.1365G>A (p.Lys455=)
NM_015474.4(SAMHD1):c.1380G>T (p.Thr460=)
NM_015474.4(SAMHD1):c.1389A>G (p.Thr463=)
NM_015474.4(SAMHD1):c.1410+12G>A
NM_015474.4(SAMHD1):c.1410+15A>C
NM_015474.4(SAMHD1):c.1410+15A>G
NM_015474.4(SAMHD1):c.1410+17C>G
NM_015474.4(SAMHD1):c.1410+6dup rs2148360509
NM_015474.4(SAMHD1):c.1410+8dup rs2148360504
NM_015474.4(SAMHD1):c.1410+9T>C
NM_015474.4(SAMHD1):c.1411-11G>T
NM_015474.4(SAMHD1):c.1411-17A>G
NM_015474.4(SAMHD1):c.1411-19G>A
NM_015474.4(SAMHD1):c.1411-19G>T
NM_015474.4(SAMHD1):c.1411-20G>A
NM_015474.4(SAMHD1):c.1411-5T>C
NM_015474.4(SAMHD1):c.1411-7T>C rs2148359780
NM_015474.4(SAMHD1):c.1416C>T (p.Asp472=)
NM_015474.4(SAMHD1):c.141G>A (p.Pro47=)
NM_015474.4(SAMHD1):c.141G>C (p.Pro47=)
NM_015474.4(SAMHD1):c.1422A>G (p.Glu474=)
NM_015474.4(SAMHD1):c.1428T>A (p.Leu476=)
NM_015474.4(SAMHD1):c.1431A>C (p.Pro477=) rs781256664
NM_015474.4(SAMHD1):c.1431A>G (p.Pro477=) rs781256664
NM_015474.4(SAMHD1):c.1437G>A (p.Glu479=)
NM_015474.4(SAMHD1):c.1443C>T (p.Ala481=)
NM_015474.4(SAMHD1):c.1455C>T (p.Pro485=) rs879334178
NM_015474.4(SAMHD1):c.1464G>A (p.Leu488=)
NM_015474.4(SAMHD1):c.1465C>T (p.Leu489=)
NM_015474.4(SAMHD1):c.1467A>G (p.Leu489=) rs2148359699
NM_015474.4(SAMHD1):c.1470C>T (p.Asp490=) rs889518882
NM_015474.4(SAMHD1):c.147G>A (p.Gln49=)
NM_015474.4(SAMHD1):c.1482G>A (p.Lys494=)
NM_015474.4(SAMHD1):c.1503+11A>G
NM_015474.4(SAMHD1):c.1503+15C>T
NM_015474.4(SAMHD1):c.1503+16A>C
NM_015474.4(SAMHD1):c.1503+9T>A
NM_015474.4(SAMHD1):c.1504-11C>T
NM_015474.4(SAMHD1):c.1504-19G>C
NM_015474.4(SAMHD1):c.1521T>C (p.Tyr507=)
NM_015474.4(SAMHD1):c.1557C>T (p.Ser519=)
NM_015474.4(SAMHD1):c.1563T>C (p.Tyr521=) rs745419546
NM_015474.4(SAMHD1):c.1581C>T (p.Asn527=)
NM_015474.4(SAMHD1):c.15T>C (p.Asp5=)
NM_015474.4(SAMHD1):c.1608+10T>A rs1467936950
NM_015474.4(SAMHD1):c.1608+20A>G
NM_015474.4(SAMHD1):c.1608+7A>C rs2148355927
NM_015474.4(SAMHD1):c.1608+8C>G
NM_015474.4(SAMHD1):c.1608+9T>C rs2148355926
NM_015474.4(SAMHD1):c.1609-11A>T
NM_015474.4(SAMHD1):c.1609-15C>T
NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=) rs1990227839
NM_015474.4(SAMHD1):c.1629G>A (p.Glu543=) rs1601112678
NM_015474.4(SAMHD1):c.1645C>T (p.Leu549=) rs2148355580
NM_015474.4(SAMHD1):c.1659T>C (p.Tyr553=)
NM_015474.4(SAMHD1):c.1674C>T (p.Asp558=) rs1252711773
NM_015474.4(SAMHD1):c.168C>T (p.Arg56=) rs370376351
NM_015474.4(SAMHD1):c.1695A>C (p.Ala565=) rs1012848236
NM_015474.4(SAMHD1):c.1701A>G (p.Gln567=)
NM_015474.4(SAMHD1):c.1734C>T (p.Phe578=)
NM_015474.4(SAMHD1):c.1740G>A (p.Lys580=)
NM_015474.4(SAMHD1):c.1746+10C>T rs2148355475
NM_015474.4(SAMHD1):c.1746+17T>C
NM_015474.4(SAMHD1):c.1746+17_1746+20del
NM_015474.4(SAMHD1):c.1746+18C>T rs2148355462
NM_015474.4(SAMHD1):c.1746+7G>A
NM_015474.4(SAMHD1):c.1746+8G>A
NM_015474.4(SAMHD1):c.1746+9C>A
NM_015474.4(SAMHD1):c.174C>T (p.Gly58=) rs2146160518
NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)
NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)
NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)
NM_015474.4(SAMHD1):c.180A>G (p.Glu60=)
NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)
NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=) rs1601108388
NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)
NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=) rs2148352120
NM_015474.4(SAMHD1):c.186G>C (p.Pro62=) rs2146160488
NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)
NM_015474.4(SAMHD1):c.18C>A (p.Ser6=)
NM_015474.4(SAMHD1):c.193C>T (p.Leu65=)
NM_015474.4(SAMHD1):c.208+12G>A rs200586933
NM_015474.4(SAMHD1):c.208+12G>C rs200586933
NM_015474.4(SAMHD1):c.208+13G>A
NM_015474.4(SAMHD1):c.208+16G>T
NM_015474.4(SAMHD1):c.208+18G>A
NM_015474.4(SAMHD1):c.209-10T>C rs2146151537
NM_015474.4(SAMHD1):c.209-15dup rs1600394552
NM_015474.4(SAMHD1):c.209-17T>C
NM_015474.4(SAMHD1):c.209-18G>A
NM_015474.4(SAMHD1):c.209-7T>C rs2146151531
NM_015474.4(SAMHD1):c.209-9C>G
NM_015474.4(SAMHD1):c.21G>A (p.Glu7=) rs1479750345
NM_015474.4(SAMHD1):c.225C>A (p.Gly75=)
NM_015474.4(SAMHD1):c.225C>T (p.Gly75=) rs527385232
NM_015474.4(SAMHD1):c.228A>G (p.Ala76=) rs2063689294
NM_015474.4(SAMHD1):c.229T>C (p.Leu77=) rs2146151462
NM_015474.4(SAMHD1):c.243T>G (p.Leu81=) rs1316259613
NM_015474.4(SAMHD1):c.267T>G (p.Leu89=) rs2146151397
NM_015474.4(SAMHD1):c.273A>G (p.Val91=)
NM_015474.4(SAMHD1):c.275+7A>G
NM_015474.4(SAMHD1):c.275+9G>A rs763934219
NM_015474.4(SAMHD1):c.275+9G>C rs763934219
NM_015474.4(SAMHD1):c.276-11T>G
NM_015474.4(SAMHD1):c.276-12T>C
NM_015474.4(SAMHD1):c.276-13A>G
NM_015474.4(SAMHD1):c.276-15C>G
NM_015474.4(SAMHD1):c.276-16C>T
NM_015474.4(SAMHD1):c.276-20T>C rs2063641728
NM_015474.4(SAMHD1):c.276-8A>G
NM_015474.4(SAMHD1):c.276-9T>C
NM_015474.4(SAMHD1):c.279C>T (p.Ser93=)
NM_015474.4(SAMHD1):c.282G>A (p.Leu94=)
NM_015474.4(SAMHD1):c.285G>A (p.Gly95=) rs2146144602
NM_015474.4(SAMHD1):c.291G>A (p.Arg97=) rs1308693389
NM_015474.4(SAMHD1):c.294G>A (p.Lys98=) rs535408526
NM_015474.4(SAMHD1):c.297G>A (p.Lys99=)
NM_015474.4(SAMHD1):c.316C>A (p.Arg106=) rs779028596
NM_015474.4(SAMHD1):c.330C>T (p.Ile110=)
NM_015474.4(SAMHD1):c.336T>C (p.Val112=)
NM_015474.4(SAMHD1):c.339T>C (p.Asp113=) rs2146144529
NM_015474.4(SAMHD1):c.33G>A (p.Lys11=)
NM_015474.4(SAMHD1):c.348+13G>A
NM_015474.4(SAMHD1):c.348+14A>C rs1600389905
NM_015474.4(SAMHD1):c.348+17T>G rs2146144489
NM_015474.4(SAMHD1):c.348+19G>A rs2063640331
NM_015474.4(SAMHD1):c.348+19_348+21del rs1178558707
NM_015474.4(SAMHD1):c.348+7G>A rs568011642
NM_015474.4(SAMHD1):c.348+7G>C rs568011642
NM_015474.4(SAMHD1):c.349-11T>C
NM_015474.4(SAMHD1):c.349-11_349-10del
NM_015474.4(SAMHD1):c.349-14A>T
NM_015474.4(SAMHD1):c.349-16A>T
NM_015474.4(SAMHD1):c.349-18_349-15del
NM_015474.4(SAMHD1):c.349-5T>C rs2063595719
NM_015474.4(SAMHD1):c.351A>G (p.Val117=)
NM_015474.4(SAMHD1):c.369T>C (p.His123=)
NM_015474.4(SAMHD1):c.381G>A (p.Glu127=)
NM_015474.4(SAMHD1):c.384C>G (p.Leu128=)
NM_015474.4(SAMHD1):c.393C>T (p.Leu131=) rs2146137613
NM_015474.4(SAMHD1):c.396C>G (p.Leu132=)
NM_015474.4(SAMHD1):c.402A>C (p.Arg134=)
NM_015474.4(SAMHD1):c.411T>C (p.Asp137=) rs2146137550
NM_015474.4(SAMHD1):c.414A>G (p.Thr138=)
NM_015474.4(SAMHD1):c.438C>T (p.Tyr146=) rs2146137471
NM_015474.4(SAMHD1):c.441C>A (p.Ile147=) rs201880612
NM_015474.4(SAMHD1):c.447G>A (p.Gln149=)
NM_015474.4(SAMHD1):c.459T>C (p.Gly153=) rs2146137431
NM_015474.4(SAMHD1):c.465T>C (p.Tyr155=)
NM_015474.4(SAMHD1):c.477A>G (p.Gly159=) rs2146137401
NM_015474.4(SAMHD1):c.480T>G (p.Ala160=)
NM_015474.4(SAMHD1):c.48T>C (p.Asp16=) rs1330443890
NM_015474.4(SAMHD1):c.490C>A (p.Arg164=) rs267607027
NM_015474.4(SAMHD1):c.498G>A (p.Glu166=)
NM_015474.4(SAMHD1):c.501T>C (p.His167=)
NM_015474.4(SAMHD1):c.507A>G (p.Leu169=) rs2146137349
NM_015474.4(SAMHD1):c.509+10G>A rs2146137336
NM_015474.4(SAMHD1):c.509+11A>G
NM_015474.4(SAMHD1):c.509+14G>A
NM_015474.4(SAMHD1):c.509+17G>C
NM_015474.4(SAMHD1):c.509+8G>A rs2146137337
NM_015474.4(SAMHD1):c.509+9G>A
NM_015474.4(SAMHD1):c.510-10T>G
NM_015474.4(SAMHD1):c.510-13T>G rs764856158
NM_015474.4(SAMHD1):c.510-14T>C
NM_015474.4(SAMHD1):c.510-17G>T rs1555835836
NM_015474.4(SAMHD1):c.510-19_510-18del
NM_015474.4(SAMHD1):c.510-20T>G rs2146132172
NM_015474.4(SAMHD1):c.513G>A (p.Val171=)
NM_015474.4(SAMHD1):c.513G>C (p.Val171=) rs903077482
NM_015474.4(SAMHD1):c.516G>A (p.Gly172=) rs539358895
NM_015474.4(SAMHD1):c.516G>T (p.Gly172=) rs539358895
NM_015474.4(SAMHD1):c.525A>C (p.Ala175=) rs1438006542
NM_015474.4(SAMHD1):c.532C>T (p.Leu178=)
NM_015474.4(SAMHD1):c.534A>G (p.Leu178=) rs771148482
NM_015474.4(SAMHD1):c.540C>T (p.His180=) rs2146132084
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015474.4(SAMHD1):c.555A>G (p.Lys185=)
NM_015474.4(SAMHD1):c.57G>C (p.Pro19=)
NM_015474.4(SAMHD1):c.588T>A (p.Val196=) rs2146131970
NM_015474.4(SAMHD1):c.588T>C (p.Val196=)
NM_015474.4(SAMHD1):c.58A>C (p.Arg20=)
NM_015474.4(SAMHD1):c.625+10A>T
NM_015474.4(SAMHD1):c.625+11C>T
NM_015474.4(SAMHD1):c.625+12A>G
NM_015474.4(SAMHD1):c.625+17G>A
NM_015474.4(SAMHD1):c.625+17G>C
NM_015474.4(SAMHD1):c.625+19C>T
NM_015474.4(SAMHD1):c.625+8G>A rs537246518
NM_015474.4(SAMHD1):c.626-15G>A
NM_015474.4(SAMHD1):c.626-8T>C rs2146127859
NM_015474.4(SAMHD1):c.63C>A (p.Thr21=)
NM_015474.4(SAMHD1):c.63C>G (p.Thr21=)
NM_015474.4(SAMHD1):c.645C>T (p.His215=) rs2146127828
NM_015474.4(SAMHD1):c.657A>G (p.Gly219=) rs2146127775
NM_015474.4(SAMHD1):c.669A>G (p.Pro223=)
NM_015474.4(SAMHD1):c.66C>G (p.Pro22=) rs2146160870
NM_015474.4(SAMHD1):c.672T>C (p.Leu224=) rs2146127757
NM_015474.4(SAMHD1):c.678C>T (p.Arg226=) rs2146127744
NM_015474.4(SAMHD1):c.681G>T (p.Pro227=) rs144587056
NM_015474.4(SAMHD1):c.687G>T (p.Val229=)
NM_015474.4(SAMHD1):c.690A>G (p.Lys230=) rs2063541744
NM_015474.4(SAMHD1):c.696+10C>A
NM_015474.4(SAMHD1):c.696+17T>C
NM_015474.4(SAMHD1):c.696+20A>G
NM_015474.4(SAMHD1):c.696+7A>G
NM_015474.4(SAMHD1):c.697-20A>G
NM_015474.4(SAMHD1):c.697-5C>T rs780562967
NM_015474.4(SAMHD1):c.699T>C (p.His233=) rs758776995
NM_015474.4(SAMHD1):c.741T>C (p.Ser247=)
NM_015474.4(SAMHD1):c.744T>C (p.Asn248=) rs2146119590
NM_015474.4(SAMHD1):c.747A>C (p.Gly249=) rs2146119586
NM_015474.4(SAMHD1):c.753G>A (p.Lys251=) rs1331067278
NM_015474.4(SAMHD1):c.756T>C (p.Pro252=) rs1601132420
NM_015474.4(SAMHD1):c.75C>G (p.Thr25=)
NM_015474.4(SAMHD1):c.75C>T (p.Thr25=)
NM_015474.4(SAMHD1):c.771T>C (p.Tyr257=)
NM_015474.4(SAMHD1):c.774T>C (p.Gly258=)
NM_015474.4(SAMHD1):c.780C>A (p.Ile260=)
NM_015474.4(SAMHD1):c.78T>C (p.Pro26=)
NM_015474.4(SAMHD1):c.810A>G (p.Glu270=) rs2146119450
NM_015474.4(SAMHD1):c.819A>G (p.Val273=)
NM_015474.4(SAMHD1):c.81C>A (p.Ser27=)
NM_015474.4(SAMHD1):c.81C>G (p.Ser27=)
NM_015474.4(SAMHD1):c.822A>G (p.Gly274=)
NM_015474.4(SAMHD1):c.828T>C (p.Leu276=) rs2146119427
NM_015474.4(SAMHD1):c.846T>C (p.Asp282=)
NM_015474.4(SAMHD1):c.849A>C (p.Ser283=) rs1297061868
NM_015474.4(SAMHD1):c.84A>G (p.Ala28=)
NM_015474.4(SAMHD1):c.84A>T (p.Ala28=)
NM_015474.4(SAMHD1):c.852+11G>A
NM_015474.4(SAMHD1):c.852+14C>T
NM_015474.4(SAMHD1):c.852+15A>C
NM_015474.4(SAMHD1):c.852+16G>A
NM_015474.4(SAMHD1):c.852+17C>T
NM_015474.4(SAMHD1):c.861T>C (p.Tyr287=) rs752962934
NM_015474.4(SAMHD1):c.867G>T (p.Gly289=) rs1601130409
NM_015474.4(SAMHD1):c.879C>T (p.Asn293=)
NM_015474.4(SAMHD1):c.903A>G (p.Val301=)
NM_015474.4(SAMHD1):c.924T>C (p.Ile308=) rs1422794120
NM_015474.4(SAMHD1):c.953+12A>G
NM_015474.4(SAMHD1):c.953+19T>G
NM_015474.4(SAMHD1):c.953+7A>C rs1472597876
NM_015474.4(SAMHD1):c.953+7A>G rs1472597876
NM_015474.4(SAMHD1):c.954-17T>G
NM_015474.4(SAMHD1):c.954-24CT[2] rs780918592
NM_015474.4(SAMHD1):c.999C>A (p.Arg333=) rs2146116905
NM_015474.4(SAMHD1):c.99C>A (p.Ser33=) rs1014839218
NM_015474.4(SAMHD1):c.99C>T (p.Ser33=) rs1014839218
NM_080628.3(TLDC2):c.*230G>C
NM_080628.3(TLDC2):c.*231_*234del rs2148352274
NM_080628.3(TLDC2):c.*233GA[3] rs774995485
NM_080628.3(TLDC2):c.*237G>A
NM_080628.3(TLDC2):c.*238A>T rs749714514

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