List of variants in gene ASPM reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)	rs150125249	0.00378
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)	rs41299625	0.00095
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)	rs78215018	0.00093
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)	rs41299627	0.00021
NM_018136.5(ASPM):c.761A>G (p.Glu254Gly)	rs767536421	0.00006
NM_018136.5(ASPM):c.350G>A (p.Arg117Gln)	rs147420907	0.00005
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)	rs199874115	0.00002
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys)	rs200733896	0.00002
NM_018136.5(ASPM):c.10113A>C (p.Lys3371Asn)	rs767471866	0.00001
NM_018136.5(ASPM):c.3168+7T>G	rs370546641	0.00001
NM_018136.5(ASPM):c.1402_1406del (p.Asn468fs)	rs1245021867
NM_018136.5(ASPM):c.3599-7A>G	rs886045777
NM_018136.5(ASPM):c.7667C>T (p.Ala2556Val)	rs1411046226
NM_018136.5(ASPM):c.9314A>G (p.Lys3105Arg)	rs1656801765
NM_018136.5(ASPM):c.9446G>T (p.Arg3149Ile)	rs1656767645

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