ClinVar Miner

List of variants reported as uncertain significance for Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.1641+1G>C	rs35337543	0.00728
NM_022168.4(IFIH1):c.1764del (p.Ala589fs)	rs553669430
NM_022168.4(IFIH1):c.769+3A>G	rs769979161

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