ClinVar Miner

List of variants in gene SAMHD1 studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP
LRG_281t1:c.(Exons12-16del)
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
NC_000020.11:g.(?_36904137)_(36912572_?)del
NC_000020.11:g.(?_36911198)_(36919539_?)dup
NM_015474.3(SAMHD1):c.-10A>G rs199721283
NM_015474.3(SAMHD1):c.-110T>C rs28372906
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.-31T>C rs142162198
NM_015474.3(SAMHD1):c.-39C>A rs368233437
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.3(SAMHD1):c.1037A>C (p.Glu346Ala) rs886056648
NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)
NM_015474.3(SAMHD1):c.1293A>T (p.Leu431Phe) rs1356154563
NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro)
NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys) rs142393072
NM_015474.3(SAMHD1):c.1408delA (p.Arg470Glyfs)
NM_015474.3(SAMHD1):c.1411-2A>G rs515726141
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_015474.3(SAMHD1):c.1503+1G>T rs515726142
NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met)
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1609-1G>C rs515726143
NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.1735A>G (p.Thr579Ala) rs886056647
NM_015474.3(SAMHD1):c.1746+4_1746+15delGGTGGCCTGTTA
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)
NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) rs121434520
NM_015474.3(SAMHD1):c.401G>A (p.Arg134Gln) rs767413799
NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948
NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) rs369035155
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027
NM_015474.3(SAMHD1):c.571A>G (p.Ile191Val)
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.649_650insG (p.Phe217Cysfs) rs515726146
NM_015474.3(SAMHD1):c.67T>A (p.Ser23Thr) rs886056649
NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)
NM_015474.3(SAMHD1):c.697-11A>G rs200458478
NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015474.3(SAMHD1):c.840C>T (p.Val280=) rs17853622

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