ClinVar Miner

List of variants reported as likely benign for Developmental and epileptic encephalopathy, 37 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014334.4(FRRS1L):c.-63G>A rs530413587 0.00313
NM_014334.4(FRRS1L):c.395T>C (p.Val132Ala) rs149005559 0.00048
NM_014334.4(FRRS1L):c.129G>A (p.Arg43=) rs768363888 0.00026
NM_014334.4(FRRS1L):c.189C>T (p.Tyr63=) rs1052826149 0.00025
NM_014334.4(FRRS1L):c.39G>A (p.Ala13=) rs773235133 0.00017
NM_014334.4(FRRS1L):c.30G>C (p.Gly10=) rs895585877 0.00008
NM_014334.4(FRRS1L):c.678T>C (p.Tyr226=) rs376047829 0.00006
NM_014334.4(FRRS1L):c.492T>C (p.His164=) rs201285410 0.00005
NM_014334.4(FRRS1L):c.238+11G>A rs553540396 0.00004
NM_014334.4(FRRS1L):c.294C>T (p.Asp98=) rs755962433 0.00004
NM_014334.4(FRRS1L):c.-94T>A rs764458795 0.00003
NM_014334.4(FRRS1L):c.126C>A (p.Pro42=) rs1425779857 0.00003
NM_014334.4(FRRS1L):c.323+17G>T rs573563091 0.00003
NM_014334.4(FRRS1L):c.603C>T (p.Arg201=) rs1300082493 0.00003
NM_014334.4(FRRS1L):c.-58C>T rs1280023187 0.00002
NM_014334.4(FRRS1L):c.324-11A>T rs748296431 0.00002
NM_014334.4(FRRS1L):c.387G>A (p.Gly129=) rs773843617 0.00002
NM_014334.4(FRRS1L):c.477C>T (p.Val159=) rs781029868 0.00002
NM_014334.4(FRRS1L):c.483C>A (p.Ala161=) rs754499375 0.00002
NM_014334.4(FRRS1L):c.486C>T (p.Cys162=) rs779716535 0.00002
NM_014334.4(FRRS1L):c.690T>C (p.Ala230=) rs745432003 0.00002
NC_000009.12:g.109167253G>T rs1170375441 0.00001
NC_000009.12:g.109167259C>G rs987504587 0.00001
NC_000009.12:g.109167265C>T rs758838412 0.00001
NC_000009.12:g.109167277C>T rs1404461758 0.00001
NM_014334.4(FRRS1L):c.-100G>A rs913883506 0.00001
NM_014334.4(FRRS1L):c.-102C>A rs757388680 0.00001
NM_014334.4(FRRS1L):c.-109G>T rs1256823075 0.00001
NM_014334.4(FRRS1L):c.-12C>T rs1400351195 0.00001
NM_014334.4(FRRS1L):c.-67C>G rs1342022093 0.00001
NM_014334.4(FRRS1L):c.-88T>C rs2118524399 0.00001
NM_014334.4(FRRS1L):c.111G>A (p.Pro37=) rs1418441373 0.00001
NM_014334.4(FRRS1L):c.129G>C (p.Arg43=) rs768363888 0.00001
NM_014334.4(FRRS1L):c.195C>T (p.Thr65=) rs1164302513 0.00001
NM_014334.4(FRRS1L):c.207G>A (p.Glu69=) rs1425426438 0.00001
NM_014334.4(FRRS1L):c.238+10C>T rs2538515280 0.00001
NM_014334.4(FRRS1L):c.238+20A>T rs2538515262 0.00001
NM_014334.4(FRRS1L):c.239-16T>C rs762849451 0.00001
NM_014334.4(FRRS1L):c.239-4C>T rs750308690 0.00001
NM_014334.4(FRRS1L):c.309T>C (p.Thr103=) rs552700203 0.00001
NM_014334.4(FRRS1L):c.323+19T>C rs201582253 0.00001
NM_014334.4(FRRS1L):c.323+8G>A rs753796727 0.00001
NM_014334.4(FRRS1L):c.324-15C>T rs371787706 0.00001
NM_014334.4(FRRS1L):c.324-6T>C rs755165973 0.00001
NM_014334.4(FRRS1L):c.327T>C (p.Tyr109=) rs898527400 0.00001
NM_014334.4(FRRS1L):c.336A>G (p.Pro112=) rs753741493 0.00001
NM_014334.4(FRRS1L):c.414A>C (p.Ala138=) rs747217887 0.00001
NM_014334.4(FRRS1L):c.432A>T (p.Val144=) rs368393399 0.00001
NM_014334.4(FRRS1L):c.43C>T (p.Leu15=) rs1831564608 0.00001
NM_014334.4(FRRS1L):c.462+12A>G rs762364204 0.00001
NM_014334.4(FRRS1L):c.462+8G>A rs765715019 0.00001
NM_014334.4(FRRS1L):c.463-10C>T rs1453823170 0.00001
NM_014334.4(FRRS1L):c.463-15C>A rs949092498 0.00001
NM_014334.4(FRRS1L):c.498C>T (p.Asp166=) rs558810564 0.00001
NM_014334.4(FRRS1L):c.531T>C (p.Asn177=) rs769545466 0.00001
NM_014334.4(FRRS1L):c.663G>A (p.Leu221=) rs1485238758 0.00001
NM_014334.4(FRRS1L):c.66G>A (p.Gly22=) rs1397352814 0.00001
NM_014334.4(FRRS1L):c.717C>T (p.Ile239=) rs1417573553 0.00001
NM_014334.4(FRRS1L):c.72C>T (p.Ala24=) rs1588106644 0.00001
NM_014334.4(FRRS1L):c.741G>A (p.Pro247=) rs781543300 0.00001
NM_014334.4(FRRS1L):c.744G>A (p.Pro248=) rs752083667 0.00001
NM_014334.4(FRRS1L):c.768T>C (p.Ile256=) rs1174210041 0.00001
NM_014334.4(FRRS1L):c.873A>T (p.Gly291=) rs377132738 0.00001
NM_014334.4(FRRS1L):c.879C>T (p.Pro293=) rs551792076 0.00001
NC_000009.12:g.109167279T>G rs943215649
NC_000009.12:g.109167280C>G rs2538516271
NM_014334.4(FRRS1L):c.-109G>A rs1256823075
NM_014334.4(FRRS1L):c.-21C>T rs1025173467
NM_014334.4(FRRS1L):c.-34C>A rs1487787394
NM_014334.4(FRRS1L):c.-43C>A rs969535888
NM_014334.4(FRRS1L):c.-43C>G rs969535888
NM_014334.4(FRRS1L):c.-43C>T rs969535888
NM_014334.4(FRRS1L):c.-49C>T rs1831567207
NM_014334.4(FRRS1L):c.-64G>A rs1588106755
NM_014334.4(FRRS1L):c.-70A>T rs2538516130
NM_014334.4(FRRS1L):c.-73C>G rs1831568253
NM_014334.4(FRRS1L):c.-79C>T rs1204034171
NM_014334.4(FRRS1L):c.-7C>T
NM_014334.4(FRRS1L):c.-94T>C rs764458795
NM_014334.4(FRRS1L):c.117C>G (p.Gly39=) rs1831562893
NM_014334.4(FRRS1L):c.144G>A (p.Gly48=) rs1291851597
NM_014334.4(FRRS1L):c.165G>C (p.Ala55=) rs780340038
NM_014334.4(FRRS1L):c.165G>T (p.Ala55=) rs780340038
NM_014334.4(FRRS1L):c.177C>T (p.His59=) rs1564238035
NM_014334.4(FRRS1L):c.201G>A (p.Ala67=) rs1248292885
NM_014334.4(FRRS1L):c.201G>T (p.Ala67=) rs1248292885
NM_014334.4(FRRS1L):c.213C>T (p.Tyr71=) rs2118522749
NM_014334.4(FRRS1L):c.216C>T (p.Asp72=)
NM_014334.4(FRRS1L):c.231G>A (p.Ser77=) rs746319183
NM_014334.4(FRRS1L):c.231G>T (p.Ser77=) rs746319183
NM_014334.4(FRRS1L):c.239-12C>T rs2538503137
NM_014334.4(FRRS1L):c.285C>A (p.Ile95=) rs1175070188
NM_014334.4(FRRS1L):c.288A>G (p.Lys96=) rs2538503069
NM_014334.4(FRRS1L):c.30G>A (p.Gly10=) rs895585877
NM_014334.4(FRRS1L):c.323+11C>T rs372126264
NM_014334.4(FRRS1L):c.323+15A>T rs2538502982
NM_014334.4(FRRS1L):c.323+9A>C rs1831305195
NM_014334.4(FRRS1L):c.324-12T>C rs1831274723
NM_014334.4(FRRS1L):c.324-19C>T
NM_014334.4(FRRS1L):c.33C>G (p.Val11=)
NM_014334.4(FRRS1L):c.363T>C (p.Tyr121=) rs2118482339
NM_014334.4(FRRS1L):c.462+13A>G
NM_014334.4(FRRS1L):c.462+16del rs2118481793
NM_014334.4(FRRS1L):c.462+18A>G rs527552417
NM_014334.4(FRRS1L):c.463-19C>T
NM_014334.4(FRRS1L):c.463-5G>A rs2118468399
NM_014334.4(FRRS1L):c.48C>T (p.Leu16=) rs1026370550
NM_014334.4(FRRS1L):c.501T>C (p.Asn167=)
NM_014334.4(FRRS1L):c.54G>A (p.Leu18=) rs1588106658
NM_014334.4(FRRS1L):c.555T>C (p.Ile185=) rs2118468038
NM_014334.4(FRRS1L):c.561A>G (p.Arg187=) rs2118468029
NM_014334.4(FRRS1L):c.570C>T (p.Ala190=)
NM_014334.4(FRRS1L):c.57A>G (p.Leu19=) rs1191713131
NM_014334.4(FRRS1L):c.58C>T (p.Leu20=) rs2118523590
NM_014334.4(FRRS1L):c.597C>T (p.Asn199=) rs2118467843
NM_014334.4(FRRS1L):c.606C>T (p.Val202=) rs1588097010
NM_014334.4(FRRS1L):c.624C>A (p.Arg208=) rs774532898
NM_014334.4(FRRS1L):c.654T>C (p.Ile218=) rs2118467535
NM_014334.4(FRRS1L):c.660T>C (p.Asp220=) rs2538496988
NM_014334.4(FRRS1L):c.661C>T (p.Leu221=) rs768519807
NM_014334.4(FRRS1L):c.709+19A>G rs1588096957
NM_014334.4(FRRS1L):c.710-20C>T rs1402133960
NM_014334.4(FRRS1L):c.710-7C>G rs1564227777
NM_014334.4(FRRS1L):c.710-8T>C rs775558878
NM_014334.4(FRRS1L):c.735C>T (p.Asp245=) rs2538494480
NM_014334.4(FRRS1L):c.771C>T (p.Tyr257=) rs1432798763
NM_014334.4(FRRS1L):c.813C>T (p.Thr271=) rs2118459091
NM_014334.4(FRRS1L):c.822T>A (p.Ser274=) rs2118459042
NM_014334.4(FRRS1L):c.852G>A (p.Leu284=) rs1588095618
NM_014334.4(FRRS1L):c.862C>T (p.Leu288=) rs1554732084
NM_014334.4(FRRS1L):c.90C>G (p.Pro30=) rs1037617722
NM_014334.4(FRRS1L):c.90C>T (p.Pro30=) rs1037617722

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.