ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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