List of variants in gene ASPM reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)	rs199422161	0.00001
NM_018136.5(ASPM):c.2217_2221del (p.Ile740fs)
NM_018136.5(ASPM):c.4870delinsTATATTCTGGT (p.Lys1624fs)	rs2125096288
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)	rs199422169
NM_018136.5(ASPM):c.637del (p.Ile213fs)	rs587783258
NM_018136.5(ASPM):c.6623_6626del (p.Tyr2208fs)	rs1571599902
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)	rs587783263
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)	rs199422173
NM_018136.5(ASPM):c.7783_7786del (p.Lys2595fs)	rs763800571
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)	rs587783280

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