ClinVar Miner

List of variants in gene ASPM reported as pathogenic by Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter) rs199422151
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter) rs199422152
NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) rs1571600860
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs) rs199422173
NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) rs1558328287

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