ClinVar Miner

List of variants studied for Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 by GenomeConnect - Invitae Patient Insights Network

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser) rs202009944 0.00006
NM_022168.4(IFIH1):c.2158C>G (p.Arg720Gly) rs761864966
NM_022168.4(IFIH1):c.730T>C (p.Ser244Pro) rs753380568

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