List of variants in gene combination CDKL5, RS1 reported by Natera, Inc.

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.295A>G (p.Asn99Asp)	rs144683916	0.01920
NM_000330.4(RS1):c.523-10A>C	rs142428831	0.00691
NM_000330.4(RS1):c.258G>A (p.Pro86=)	rs147290350	0.00472
NM_000330.4(RS1):c.548C>T (p.Thr183Ile)	rs150172233	0.00178
NM_000330.4(RS1):c.264G>C (p.Gln88His)	rs201680258	0.00021
NM_000330.4(RS1):c.285G>A (p.Ser95=)	rs143920122	0.00018
NM_000330.4(RS1):c.234G>A (p.Pro78=)	rs183092299	0.00003
NM_000330.4(RS1):c.521G>A (p.Arg174Gln)	rs765547068	0.00003
NM_000330.4(RS1):c.257C>T (p.Pro86Leu)	rs761385911	0.00002
NM_000330.4(RS1):c.320G>A (p.Gly107Asp)	rs143682861	0.00002
NM_000330.4(RS1):c.471C>T (p.Thr157=)	rs754381417	0.00002
NM_000330.4(RS1):c.213C>T (p.Phe71=)	rs764292483	0.00001
NM_000330.4(RS1):c.326+8G>C	rs752870628	0.00001
NM_000330.4(RS1):c.572G>A (p.Arg191Gln)	rs1402116265	0.00001
NM_000330.4(RS1):c.286T>C (p.Trp96Arg)	rs61752063
NM_000330.4(RS1):c.523-10_523-7del	rs746069375
NM_000330.4(RS1):c.574C>T (p.Pro192Ser)	rs61753174

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