ClinVar Miner

List of variants reported as pathogenic for CEBALID syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter) rs1601319598
NM_002430.3(MN1):c.3846_3849del (p.Val1283fs) rs1601319584
NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter) rs1601319538
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501

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