List of variants reported as pathogenic for autoinflammatory syndrome of childhood by 3billion

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Total variants: 10

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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.934C>T (p.Arg312Ter)	rs368615054	0.00006
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_001111.5(ADAR):c.600_646del (p.Ser200_Thr201insTer)
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)	rs200930463
NM_015474.4(SAMHD1):c.1062+1G>T
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	rs587777446
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798

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