ClinVar Miner

List of variants reported as benign for childhood epilepsy with centrotemporal spikes by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806 0.33435
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193 0.27838
NM_001134407.3(GRIN2A):c.1008-16C>G rs9932916 0.03409
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290 0.01998
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00322
NM_001134407.3(GRIN2A):c.1652-13T>C rs201444481 0.00226
NM_001134407.3(GRIN2A):c.1122+16T>A rs149886469 0.00187
NM_001134407.3(GRIN2A):c.1251C>T (p.Val417=) rs139329447 0.00150
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202 0.00143
NM_001134407.3(GRIN2A):c.1777+17G>A rs375869375 0.00134
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998 0.00133
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001134407.3(GRIN2A):c.2007+15C>T rs76627672 0.00114
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658 0.00076
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001134407.3(GRIN2A):c.1006C>T (p.Pro336Ser) rs148511104 0.00010
NM_001134407.3(GRIN2A):c.3535T>G (p.Ser1179Ala) rs142670870 0.00010
NM_001134407.3(GRIN2A):c.1057G>A (p.Glu353Lys) rs373239575 0.00009
NM_001134407.3(GRIN2A):c.3795G>T (p.Gln1265His) rs147556384 0.00007
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00006
NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=) rs143779792 0.00006
NM_001134407.3(GRIN2A):c.2331G>A (p.Leu777=) rs118035164 0.00006
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_001134407.3(GRIN2A):c.2532G>A (p.Lys844=) rs754414929 0.00004
NM_001134407.3(GRIN2A):c.1278C>G (p.Thr426=) rs776324005 0.00003
NM_001134407.3(GRIN2A):c.1780C>T (p.Pro594Ser) rs367543140 0.00003
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160 0.00003
NM_001134407.3(GRIN2A):c.72C>G (p.Ser24Arg) rs781722466 0.00003
NM_001134407.3(GRIN2A):c.1629C>T (p.Thr543=) rs758378272 0.00002
NM_001134407.3(GRIN2A):c.2695C>T (p.Arg899Trp) rs796052553 0.00002
NM_001134407.3(GRIN2A):c.2907C>G (p.Asn969Lys) rs772589363 0.00002
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp) rs765257420 0.00002
NM_001134407.3(GRIN2A):c.3192G>A (p.Thr1064=) rs748790515 0.00002
NM_001134407.3(GRIN2A):c.1329-9T>G rs541442732 0.00001
NM_001134407.3(GRIN2A):c.1345G>T (p.Gly449Trp) rs1218196720 0.00001
NM_001134407.3(GRIN2A):c.1770A>C (p.Lys590Asn) rs563779542 0.00001
NM_001134407.3(GRIN2A):c.2859G>C (p.Glu953Asp) rs749810424 0.00001
NM_001134407.3(GRIN2A):c.3123T>C (p.Asn1041=) rs574425467 0.00001
NM_001134407.3(GRIN2A):c.3191C>T (p.Thr1064Met) rs756930722 0.00001
NM_001134407.3(GRIN2A):c.3834A>G (p.Gln1278=) rs145833287 0.00001
NM_001134407.3(GRIN2A):c.4184C>T (p.Ala1395Val) rs199696775 0.00001
NM_001134407.3(GRIN2A):c.418C>G (p.Pro140Ala) rs776317814 0.00001
NM_001134407.3(GRIN2A):c.810A>G (p.Lys270=) rs367543122 0.00001
NM_001134407.3(GRIN2A):c.1251C>A (p.Val417=) rs139329447
NM_001134407.3(GRIN2A):c.1802T>C (p.Ile601Thr) rs1404462639
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2356+20del rs1567305177
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2771T>C (p.Phe924Ser) rs1177789326
NM_001134407.3(GRIN2A):c.2889C>G (p.Leu963=)
NM_001134407.3(GRIN2A):c.2894C>T (p.Thr965Ile) rs886042323
NM_001134407.3(GRIN2A):c.294C>G (p.Leu98=)
NM_001134407.3(GRIN2A):c.3223G>A (p.Asp1075Asn)
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro) rs534440095
NM_001134407.3(GRIN2A):c.3591T>A (p.Gly1197=) rs532278751
NM_001134407.3(GRIN2A):c.3594C>A (p.Ser1198=)
NM_001134407.3(GRIN2A):c.3976G>A (p.Gly1326Ser)
NM_001134407.3(GRIN2A):c.415-10del rs2044774386
NM_001134407.3(GRIN2A):c.566C>A (p.Thr189Asn) rs1377082706

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.