ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by OMIM

Included ClinVar conditions (14):
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Total variants: 44
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HGVS dbSNP
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_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) rs397515480
NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910
NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_015474.3(SAMHD1):c.-6085_209-1941del
NM_015474.3(SAMHD1):c.1609-1G>C rs515726143
NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) rs121434519
NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) rs121434520
NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948
NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517
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.602T>A (p.Ile201Asn) rs138603088
NM_015474.3(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516
NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup) rs74556809
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_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024570.3(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009
NM_033629.6(TREX1):c.581del (p.Ser194fs)
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272

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