List of variants in gene combination ASPM, LOC129932155 reported as uncertain significance for Microcephaly 5, primary, autosomal recessive

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.135C>T (p.Cys45=)	rs200874183	0.00007
NM_018136.5(ASPM):c.112G>A (p.Val38Ile)	rs587783214	0.00001
NM_018136.5(ASPM):c.128A>G (p.His43Arg)	rs763864896	0.00001
NM_018136.5(ASPM):c.193C>A (p.Leu65Met)	rs780727023	0.00001

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