List of variants in gene ASPM reported as pathogenic by Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter)	rs199422141
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs)	rs199422144
NM_018136.5(ASPM):c.1932del (p.Phe645fs)	rs2125112411
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)	rs145489194
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)	rs199422163
NM_018136.5(ASPM):c.4250_4251del (p.Arg1416_Tyr1417insTer)	rs1571602991
NM_018136.5(ASPM):c.5590_5591del (p.Leu1864fs)	rs1571601267
NM_018136.5(ASPM):c.6513dup (p.Val2172fs)	rs1571600045
NM_018136.5(ASPM):c.6686_6689del (p.Arg2229fs)	rs770540184
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	rs199422173
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)	rs587783278
NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs)	rs2125093294
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter)	rs199422199

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