ClinVar Miner

List of variants in gene ASPM reported by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter) rs587783275 0.00001
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) rs1385075246
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter) rs587783215
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs) rs199422147
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter) rs1057520873
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter) rs137852997

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