ClinVar Miner

List of variants reported as likely pathogenic for CEBALID syndrome by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)
NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)	rs2146315211
NM_002430.3(MN1):c.487G>T (p.Glu163Ter)

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