ClinVar Miner

List of variants reported as not provided for autoinflammatory syndrome of childhood by GeneReviews

Included ClinVar conditions (49):
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ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600 0.00003
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His) rs75037667 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 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_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.1411-2A>G rs515726141 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.428G>A (p.Arg143His) rs369035155 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs) rs515726146 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) rs76224909 0.00001
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs) rs77672568
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs) rs78705193
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser) rs515726139
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val) rs515726140
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter) rs369587937
NM_015474.4(SAMHD1):c.1503+1G>T rs515726142
NM_015474.4(SAMHD1):c.1609-1G>C rs515726143
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del) rs515726144
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln) rs515726145
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter) rs121434518
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val) rs121434521
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.365T>C (p.Val122Ala) rs79993407
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) rs74876396
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.602T>A (p.Val201Asp) rs78408272
NM_033629.6(TREX1):c.609_662dup (p.Ala221_His222insLeuLeuSerIleCysGlnTrpArgProGlnAlaLeuLeuArgTrpValAspAla) rs78379807
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) rs78948846
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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