List of variants reported as pathogenic for Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 by Invitae

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)	rs376048533	0.00003
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)	rs587777445
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)	rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)	rs587777446
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)	rs587777446
NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)	rs1553696482

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