ClinVar Miner

List of variants reported as likely benign for Singleton-Merten syndrome 1 by Mendelics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	rs35744605	0.00367
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)	rs773033563	0.00028
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)	rs147278787

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