ClinVar Miner

List of variants in gene SAMHD1 reported as pathogenic for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter) rs769561543 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 0.00001
NM_015474.4(SAMHD1):c.1609-1G>T rs515726143 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.316C>T (p.Arg106Ter) rs779028596 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.400C>T (p.Arg134Ter) rs752442185 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter) rs1300333132 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
NC_000020.10:g.(?_35545115)_(35563602_?)del
NC_000020.10:g.(?_35555575)_(35559288_?)del
NC_000020.10:g.(?_35563412)_(35563612_?)del
NC_000020.10:g.(?_35563422)_(35563602_?)del
NC_000020.10:g.(?_35575121)_(35580046_?)del
NC_000020.11:g.(?_36946728)_(36951653_?)del
NC_000020.11:g.(?_36951426)_(36951653_?)del
NC_000020.11:g.(?_36951436)_(36951643_?)del
NC_000020.11:g.36935169_36935190dup
NM_015474.4(SAMHD1):c.101dup (p.Leu36fs) rs752942007
NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer) rs2063478568
NM_015474.4(SAMHD1):c.1034del (p.Asn345fs) rs2146116814
NM_015474.4(SAMHD1):c.1053dup (p.Arg352Ter)
NM_015474.4(SAMHD1):c.1104_1111dup (p.Arg371fs)
NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs) rs2063446897
NM_015474.4(SAMHD1):c.1123C>T (p.Gln375Ter) rs2148365710
NM_015474.4(SAMHD1):c.1169_1179del (p.Ala389_Phe390insTer)
NM_015474.4(SAMHD1):c.1169del (p.Phe390fs)
NM_015474.4(SAMHD1):c.1180_1181del (p.Ala393_Asp394insTer)
NM_015474.4(SAMHD1):c.1211del (p.Gly404fs)
NM_015474.4(SAMHD1):c.1219dup (p.Tyr407fs)
NM_015474.4(SAMHD1):c.1256dup (p.Tyr419Ter)
NM_015474.4(SAMHD1):c.127A>T (p.Lys43Ter) rs2146160649
NM_015474.4(SAMHD1):c.1321dup (p.Ala441fs) rs2063399418
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1334dup (p.Leu445fs) rs2148360598
NM_015474.4(SAMHD1):c.1389del (p.Gly464fs)
NM_015474.4(SAMHD1):c.1408del (p.Arg470fs) rs1568762986
NM_015474.4(SAMHD1):c.1419del (p.Asp472_Tyr473insTer) rs2148359769
NM_015474.4(SAMHD1):c.1433_1434dup (p.Glu479fs)
NM_015474.4(SAMHD1):c.1435G>T (p.Glu479Ter) rs2063392759
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1444_1453del (p.Ser482fs) rs2148359722
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1512_1513del (p.Met505fs)
NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs) rs2063734182
NM_015474.4(SAMHD1):c.1552_1553del (p.His517_Val518insTer)
NM_015474.4(SAMHD1):c.1566dup (p.Lys523Ter)
NM_015474.4(SAMHD1):c.1567A>T (p.Lys523Ter) rs1601113209
NM_015474.4(SAMHD1):c.1584del (p.Ala529fs) rs2148355967
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.1612del (p.Ser538fs)
NM_015474.4(SAMHD1):c.1618del (p.Leu540fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.181G>T (p.Glu61Ter) rs747918559
NM_015474.4(SAMHD1):c.196A>T (p.Lys66Ter) rs2146160463
NM_015474.4(SAMHD1):c.287del (p.Glu96fs)
NM_015474.4(SAMHD1):c.328del (p.Ile110fs) rs759706198
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.460del (p.Tyr154fs) rs2063594580
NM_015474.4(SAMHD1):c.465T>G (p.Tyr155Ter)
NM_015474.4(SAMHD1):c.477_478dup (p.Ala160fs)
NM_015474.4(SAMHD1):c.494_495dup (p.Glu166fs) rs1601144527
NM_015474.4(SAMHD1):c.555dup (p.Gln186fs)
NM_015474.4(SAMHD1):c.568_577del (p.Gln190fs) rs1328663348
NM_015474.4(SAMHD1):c.56del (p.Pro19fs)
NM_015474.4(SAMHD1):c.577G>T (p.Glu193Ter)
NM_015474.4(SAMHD1):c.602_625+196delinsGAAATT rs2146131738
NM_015474.4(SAMHD1):c.638_647del (p.Phe213fs) rs2146127824
NM_015474.4(SAMHD1):c.66del (p.Ser23fs) rs1442728513
NM_015474.4(SAMHD1):c.693G>A (p.Trp231Ter) rs2063541685
NM_015474.4(SAMHD1):c.700G>T (p.Glu234Ter) rs1219206348
NM_015474.4(SAMHD1):c.703C>T (p.Gln235Ter) rs750807433
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015474.4(SAMHD1):c.766C>T (p.Gln256Ter)
NM_015474.4(SAMHD1):c.779del (p.Ile260fs)
NM_015474.4(SAMHD1):c.811C>T (p.Gln271Ter)
NM_015474.4(SAMHD1):c.848C>G (p.Ser283Ter)
NM_015474.4(SAMHD1):c.855G>A (p.Trp285Ter)
NM_015474.4(SAMHD1):c.861T>A (p.Tyr287Ter) rs752962934
NM_015474.4(SAMHD1):c.861_862dup (p.Lys288fs)
NM_015474.4(SAMHD1):c.883del (p.Ser295fs)
NM_015474.4(SAMHD1):c.910A>T (p.Lys304Ter)
NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) rs2063480012
NM_015474.4(SAMHD1):c.944_945dup (p.Phe316fs)
NM_015474.4(SAMHD1):c.987del (p.Phe329fs)
Single allele

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