List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome 7

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter)	rs745937740	0.00002
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)	rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)	rs1320095792
NM_022168.4(IFIH1):c.2304+1G>T	rs762865950
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)	rs587777446
NM_022168.4(IFIH1):c.716dup (p.Met240fs)	rs1558875029

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