List of variants in gene CDKL5 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)	rs144878564	0.00012
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)	rs55803460	0.00010
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)	rs748459878	0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=)	rs727503846	0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)	rs369377144	0.00005
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)	rs140332992	0.00004
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)	rs756986206	0.00002
NM_001323289.2(CDKL5):c.2152+10C>G	rs763466606	0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=)	rs727503847	0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)	rs398123694	0.00001
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)	rs886043453
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val)	rs1569214316
NM_001323289.2(CDKL5):c.463+5G>T	rs886042303
NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys)	rs794727912
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser)	rs794726990

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