List of variants studied for autoinflammatory syndrome of childhood by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_014639.4(SKIC3):c.-228+8T>C	rs2560277	0.45198
NM_022168.4(IFIH1):c.1641+1G>C	rs35337543	0.00728
NM_001611.5(ACP5):c.299G>A (p.Arg100His)	rs141651325	0.00096
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00028
NM_198282.4(STING1):c.289G>A (p.Ala97Thr)	rs181566154	0.00025
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)	rs146627706	0.00018
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)	rs753679297
NM_006929.5(SKIC2):c.2341-1G>T	rs1772848223
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)	rs553669430
NM_022168.4(IFIH1):c.769+3A>G	rs769979161
NM_022168.4(IFIH1):c.875-1G>C	rs1682933667
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)	rs1769920763

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