ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_014639.4(SKIC3):c.4348G>T (p.Ala1450Ser) rs143227096 0.00039
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala) rs146627706 0.00018
NM_014639.4(SKIC3):c.4000A>G (p.Thr1334Ala) rs186169356 0.00009
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_004371.4(COPA):c.2960+6G>T rs763329682 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) rs1428846232
NM_001282225.2(ADA2):c.570C>A (p.Thr190=)
NM_004371.4(COPA):c.2476+9C>T rs758402711
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_148919.4(PSMB8):c.815G>A (p.Arg272Gln) rs368551668
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476

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