ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by 3billion

Included ClinVar conditions (48):
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Total variants: 21
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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_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg) rs781050795 0.00003
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_001611.5(ACP5):c.526C>T (p.Arg176Ter) rs1025967277 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_001282225.2(ADA2):c.1354T>C (p.Ser452Pro) rs2123600965
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001611.5(ACP5):c.772_790del (p.Ser258fs) rs878853218
NM_004371.4(COPA):c.725T>C (p.Val242Ala) rs2101847465
NM_006397.3(RNASEH2A):c.671T>A (p.Val224Glu) rs1321788478
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_014639.4(SKIC3):c.231G>A (p.Trp77Ter) rs755681347
NM_014639.4(SKIC3):c.2842G>T (p.Glu948Ter) rs2112308481
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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