List of variants in gene CPLX1 studied for developmental and epileptic encephalopathy

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006651.4(CPLX1):c.*3G>C	rs10794536	0.85261
NM_006651.4(CPLX1):c.32-5A>G	rs2306251	0.29356
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	rs371709824	0.00009
NM_006651.4(CPLX1):c.188G>A (p.Arg63His)
NM_006651.4(CPLX1):c.210C>G (p.Tyr70Ter)
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)	rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)	rs1060499735
NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)

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