List of variants in gene combination CDKL5, RS1 reported as likely benign by Invitae

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: 142

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HGVS	dbSNP	gnomAD frequency
NM_000330.4(RS1):c.185-12T>C	rs370600721	0.00010
NM_000330.4(RS1):c.185-3093C>G	rs1418563117	0.00009
NM_000330.4(RS1):c.185-3213A>C	rs143243059	0.00009
NM_000330.4(RS1):c.522G>A (p.Arg174=)	rs762407219	0.00008
NM_000330.4(RS1):c.185-3208C>T	rs140944590	0.00007
NM_000330.4(RS1):c.184+3198C>T	rs987192406	0.00006
NM_000330.4(RS1):c.326+17G>C	rs750398322	0.00006
NM_000330.4(RS1):c.184+3143G>T	rs757994307	0.00005
NM_000330.4(RS1):c.326+1115G>A	rs951430019	0.00005
NM_000330.4(RS1):c.185-3221G>C	rs374054249	0.00004
NM_000330.4(RS1):c.326+1151T>C	rs774743991	0.00004
NM_000330.4(RS1):c.184+3194A>G	rs587783162	0.00003
NM_000330.4(RS1):c.184+3205C>T	rs763292733	0.00003
NM_000330.4(RS1):c.184+3229G>T	rs1247449149	0.00003
NM_000330.4(RS1):c.306G>T (p.Arg102=)	rs762601581	0.00003
NM_000330.4(RS1):c.184+3119G>A	rs762576315	0.00002
NM_000330.4(RS1):c.184+3151C>T	rs910286513	0.00002
NM_000330.4(RS1):c.184+3160G>T	rs587783163	0.00002
NM_000330.4(RS1):c.184+3171C>T	rs727503848	0.00002
NM_000330.4(RS1):c.184+3190C>A	rs267608667	0.00002
NM_000330.4(RS1):c.185-3188G>A	rs267608665	0.00002
NM_000330.4(RS1):c.326+1130C>T	rs1487927674	0.00002
NM_000330.4(RS1):c.327-6C>T	rs372728604	0.00002
NM_000330.4(RS1):c.432C>T (p.Ile144=)	rs775507405	0.00002
NM_000330.4(RS1):c.433G>A (p.Asp145Asn)	rs184603580	0.00002
NM_000330.4(RS1):c.471C>T (p.Thr157=)	rs754381417	0.00002
NM_000330.4(RS1):c.478C>T (p.Arg160Cys)	rs766007270	0.00002
NM_000330.4(RS1):c.513A>C (p.Gly171=)	rs1218580579	0.00002
NM_000330.4(RS1):c.184+3124T>C	rs776601149	0.00001
NM_000330.4(RS1):c.184+3128G>T	rs768289707	0.00001
NM_000330.4(RS1):c.185-14T>G	rs1406465626	0.00001
NM_000330.4(RS1):c.185-3121C>T	rs368344738	0.00001
NM_000330.4(RS1):c.185-3161G>C	rs1064794669	0.00001
NM_000330.4(RS1):c.213C>T (p.Phe71=)	rs764292483	0.00001
NM_000330.4(RS1):c.216G>A (p.Glu72=)	rs104894932	0.00001
NM_000330.4(RS1):c.326+10G>A	rs1473346927	0.00001
NM_000330.4(RS1):c.326+1114C>T	rs369383134	0.00001
NM_000330.4(RS1):c.326+1159C>G	rs587783160	0.00001
NM_000330.4(RS1):c.326+1160T>C	rs773644857	0.00001
NM_000330.4(RS1):c.326+1190T>C	rs371658418	0.00001
NM_000330.4(RS1):c.326+8G>C	rs752870628	0.00001
NM_000330.4(RS1):c.327-16G>A	rs1005590954	0.00001
NM_000330.4(RS1):c.345G>A (p.Lys115=)	rs768571577	0.00001
NM_000330.4(RS1):c.510T>C (p.Thr170=)	rs1473665189	0.00001
NM_000330.4(RS1):c.523-7T>C	rs1241552856	0.00001
NM_000330.4(RS1):c.672C>T (p.Ala224=)	rs773102905	0.00001
NM_000330.4(RS1):c.184+3117C>T
NM_000330.4(RS1):c.184+3145C>G
NM_000330.4(RS1):c.184+3151C>G
NM_000330.4(RS1):c.184+3154A>G	rs1211411564
NM_000330.4(RS1):c.184+3158_184+3167del	rs1363899499
NM_000330.4(RS1):c.184+3201G>C	rs376960593
NM_000330.4(RS1):c.184+3232C>G
NM_000330.4(RS1):c.185-17T>A
NM_000330.4(RS1):c.185-29_185-17del
NM_000330.4(RS1):c.185-3058C>A	rs980932278
NM_000330.4(RS1):c.185-3074G>A
NM_000330.4(RS1):c.185-3103T>C
NM_000330.4(RS1):c.185-3124G>A	rs1602315522
NM_000330.4(RS1):c.185-3125C>T
NM_000330.4(RS1):c.185-3129G>A	rs2147197730
NM_000330.4(RS1):c.185-3157G>A
NM_000330.4(RS1):c.185-3221G>A	rs374054249
NM_000330.4(RS1):c.185-4C>T
NM_000330.4(RS1):c.185-7T>C	rs2147194244
NM_000330.4(RS1):c.192A>G (p.Pro64=)
NM_000330.4(RS1):c.201G>A (p.Lys67=)
NM_000330.4(RS1):c.204T>C (p.Pro68=)
NM_000330.4(RS1):c.219A>G (p.Ser73=)	rs2147194156
NM_000330.4(RS1):c.222G>A (p.Gly74=)
NM_000330.4(RS1):c.228C>T (p.Val76=)	rs1927822249
NM_000330.4(RS1):c.231A>C (p.Thr77=)	rs1927822098
NM_000330.4(RS1):c.249C>T (p.Cys83=)	rs2147194071
NM_000330.4(RS1):c.258G>T (p.Pro86=)
NM_000330.4(RS1):c.267T>C (p.Tyr89=)
NM_000330.4(RS1):c.279T>C (p.Tyr93=)
NM_000330.4(RS1):c.297C>T (p.Asn99=)
NM_000330.4(RS1):c.306G>A (p.Arg102=)	rs762601581
NM_000330.4(RS1):c.315T>C (p.Ser105=)
NM_000330.4(RS1):c.321C>T (p.Gly107=)
NM_000330.4(RS1):c.326+1084C>T	rs1927762103
NM_000330.4(RS1):c.326+1093_326+1094del	rs1555957573
NM_000330.4(RS1):c.326+1105T>C
NM_000330.4(RS1):c.326+1193T>C
NM_000330.4(RS1):c.326+11C>T
NM_000330.4(RS1):c.326+13C>A
NM_000330.4(RS1):c.326+13C>T
NM_000330.4(RS1):c.326+14G>C
NM_000330.4(RS1):c.326+17G>A	rs750398322
NM_000330.4(RS1):c.326+19T>A
NM_000330.4(RS1):c.326+7A>G
NM_000330.4(RS1):c.327-10T>C	rs2147191454
NM_000330.4(RS1):c.327-15G>C
NM_000330.4(RS1):c.327-17C>T
NM_000330.4(RS1):c.327-5G>C
NM_000330.4(RS1):c.327-5G>T
NM_000330.4(RS1):c.348C>T (p.Phe116=)	rs2147191388
NM_000330.4(RS1):c.354C>T (p.Asp118=)	rs1927704453
NM_000330.4(RS1):c.369A>G (p.Leu123=)
NM_000330.4(RS1):c.379C>T (p.Leu127=)	rs1927703033
NM_000330.4(RS1):c.381G>C (p.Leu127=)
NM_000330.4(RS1):c.399T>C (p.Ile133=)
NM_000330.4(RS1):c.402A>G (p.Ser134=)	rs1927701439
NM_000330.4(RS1):c.408C>T (p.Ile136=)
NM_000330.4(RS1):c.414C>A (p.Thr138=)	rs1602310733
NM_000330.4(RS1):c.420G>A (p.Gly140=)
NM_000330.4(RS1):c.423C>A (p.Arg141=)
NM_000330.4(RS1):c.435T>C (p.Asp145=)
NM_000330.4(RS1):c.465C>T (p.Tyr155=)
NM_000330.4(RS1):c.471C>G (p.Thr157=)	rs754381417
NM_000330.4(RS1):c.472G>A (p.Asp158Asn)	rs1800002
NM_000330.4(RS1):c.495C>T (p.Tyr165=)	rs2147191132
NM_000330.4(RS1):c.519C>T (p.Asn173=)
NM_000330.4(RS1):c.522+10G>A
NM_000330.4(RS1):c.522+11C>G
NM_000330.4(RS1):c.522+11C>T
NM_000330.4(RS1):c.522+16C>A
NM_000330.4(RS1):c.522+17C>G
NM_000330.4(RS1):c.522+18C>G
NM_000330.4(RS1):c.522+9G>A	rs1927692982
NM_000330.4(RS1):c.523-10_523-7del	rs746069375
NM_000330.4(RS1):c.523-11T>C
NM_000330.4(RS1):c.523-20G>T
NM_000330.4(RS1):c.523-4C>T
NM_000330.4(RS1):c.523-5T>A
NM_000330.4(RS1):c.534C>G (p.Gly178=)
NM_000330.4(RS1):c.540G>C (p.Ser180=)	rs767660711
NM_000330.4(RS1):c.546C>T (p.Arg182=)	rs1927606398
NM_000330.4(RS1):c.552C>T (p.Ser184=)
NM_000330.4(RS1):c.555G>C (p.Thr185=)	rs769781603
NM_000330.4(RS1):c.555G>T (p.Thr185=)	rs769781603
NM_000330.4(RS1):c.565C>T (p.Leu189=)
NM_000330.4(RS1):c.567G>A (p.Leu189=)	rs2147189059
NM_000330.4(RS1):c.567G>C (p.Leu189=)	rs2147189059
NM_000330.4(RS1):c.576C>A (p.Pro192=)	rs186334493
NM_000330.4(RS1):c.582C>A (p.Ile194=)
NM_000330.4(RS1):c.582C>T (p.Ile194=)
NM_000330.4(RS1):c.621C>T (p.His207=)	rs281865360
NM_000330.4(RS1):c.630T>C (p.Ile210=)
NM_000330.4(RS1):c.648G>A (p.Leu216=)
NM_000330.4(RS1):c.651G>A (p.Leu217=)
NM_000330.4(RS1):c.666G>A (p.Lys222=)	rs1800004

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