ClinVar Miner

List of variants in gene MN1 reported as likely pathogenic for CEBALID syndrome

Included ClinVar conditions (1):
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Total variants: 7
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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.3744G>A (p.Trp1248Ter) rs1297805962
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002430.3(MN1):c.3822del (p.Gly1275fs)
NM_002430.3(MN1):c.3953C>A (p.Ala1318Asp) rs2123873148
NM_002430.3(MN1):c.487G>T (p.Glu163Ter)

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