ClinVar Miner

List of variants in gene CASP2 studied for Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)	rs910498292	0.00001
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)	rs2486983740
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)	rs2486983838
NM_032982.4(CASP2):c.876+1G>T	rs1801868524

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