ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by OMIM

Included ClinVar conditions (20):
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519 0.00001
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro) rs121434520 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 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.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp) rs1559810905
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_033629.6(TREX1):c.581del (p.Ser194fs) rs1575293518
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_138425.3(C12orf57):c.-256C>T rs139594532
NM_138425.3(C12orf57):c.-266T>G rs782444004
NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT rs1255543147
NM_138425.3(C12orf57):c.-272G>A rs1055698058
NM_173491.4(LSM11):c.631G>A (p.Gly211Ser) rs2113077087
NR_023317.1(RNU7-1):n.28C>T rs180837208
NR_023317.1:n.34_50delins25

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