List of variants reported as benign for CDKL5 disorder by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.184+3118C>T	rs139155110	0.00352
NM_000330.4(RS1):c.184+3199G>A	rs36022183	0.00345
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=)	rs371902632	0.00021
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=)	rs148697943	0.00018
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)	rs144878564	0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu)	rs587783156	0.00012
NM_001323289.2(CDKL5):c.283-13A>G	rs587783404	0.00011
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)	rs201893287	0.00009
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln)	rs189400843	0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)	rs781427744	0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu)	rs199897804	0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg)	rs1481627825	0.00006
NM_000330.4(RS1):c.184+3143G>T	rs757994307	0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser)	rs748459878	0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=)	rs369377144	0.00005
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)	rs372629988	0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)	rs138125282	0.00004
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu)	rs1064795982	0.00003
NM_000330.4(RS1):c.184+3119G>A	rs762576315	0.00002
NM_000330.4(RS1):c.185-3188G>A	rs267608665	0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)	rs756986206	0.00002
NM_000330.4(RS1):c.185-3176C>T	rs747799506	0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=)	rs371603866	0.00001
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del)	rs587783114

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