ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Baylor Genetics

Included ClinVar conditions (48):
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ClinVar version:
Total variants: 61
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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_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_004371.4(COPA):c.2234G>A (p.Arg745His) rs138441444 0.00019
NM_014639.4(SKIC3):c.2125C>T (p.His709Tyr) rs140117667 0.00018
NM_148919.4(PSMB8):c.662C>T (p.Pro221Leu) rs141273371 0.00015
NM_001282225.2(ADA2):c.1065C>A (p.Phe355Leu) rs116020027 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_004371.4(COPA):c.778C>T (p.Arg260Cys) rs773636602 0.00009
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_006929.5(SKIC2):c.2341-2A>G rs781763471 0.00001
NM_014639.4(SKIC3):c.4382A>G (p.Asp1461Gly) rs766633696 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.3G>A (p.Met1Ile) rs2062397306
NM_001282225.2(ADA2):c.612G>T (p.Trp204Cys) rs2062319375
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_001330360.2(POLA1):c.3806G>T (p.Gly1269Val)
NM_001611.5(ACP5):c.262-14T>C rs1973181435
NM_001611.5(ACP5):c.682C>G (p.Leu228Val) rs142623076
NM_001611.5(ACP5):c.736-2A>G rs1973089024
NM_002796.3(PSMB4):c.472G>A (p.Gly158Arg) rs777632466
NM_004371.4(COPA):c.2680A>G (p.Ile894Val) rs1370641046
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_014639.4(SKIC3):c.1413A>G (p.Thr471=) rs1747534368
NM_014639.4(SKIC3):c.1733G>T (p.Gly578Val) rs1747497202
NM_014639.4(SKIC3):c.3055_3056dup (p.Asn1020fs)
NM_014639.4(SKIC3):c.409C>T (p.Arg137Ter) rs776321294
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014639.4(SKIC3):c.4460A>G (p.Gln1487Arg) rs757945497
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022168.4(IFIH1):c.956C>G (p.Ala319Gly) rs1682931873
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_033629.6(TREX1):c.-26-52C>T rs2040311705
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.366_368dup (p.Ala123_His124insAla) rs77371662
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>T rs180837208

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