ClinVar Miner

List of variants reported as benign for self-limited 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: 63
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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 0.01855
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00518
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464 0.00301
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.900C>T (p.Thr300=) rs143669998 0.00123
NM_001134407.3(GRIN2A):c.1777+17G>A rs375869375 0.00121
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448 0.00119
NM_001134407.3(GRIN2A):c.2007+15C>T rs76627672 0.00106
NM_001134407.3(GRIN2A):c.669C>T (p.His223=) rs138117658 0.00076
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00033
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.2331G>A (p.Leu777=) rs118035164 0.00009
NM_001134407.3(GRIN2A):c.3795G>T (p.Gln1265His) rs147556384 0.00007
NM_001134407.3(GRIN2A):c.2250C>T (p.Ile750=) rs143779792 0.00006
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009 0.00005
NM_001134407.3(GRIN2A):c.810A>G (p.Lys270=) rs367543122 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.3591T>A (p.Gly1197=) rs532278751 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.1329-9T>G rs541442732 0.00001
NM_001134407.3(GRIN2A):c.1341T>A (p.Asn447Lys) rs779989663 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.2889C>G (p.Leu963=) rs767755441 0.00001
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 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.3192G>A (p.Thr1064=) rs748790515 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.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.2894C>T (p.Thr965Ile) rs886042323
NM_001134407.3(GRIN2A):c.294C>G (p.Leu98=) rs771068226
NM_001134407.3(GRIN2A):c.3223G>A (p.Asp1075Asn) rs1177431276
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro) rs534440095
NM_001134407.3(GRIN2A):c.3594C>A (p.Ser1198=) rs745740346
NM_001134407.3(GRIN2A):c.3976G>A (p.Gly1326Ser) rs1268143219
NM_001134407.3(GRIN2A):c.415-10del rs2044774386
NM_001134407.3(GRIN2A):c.566C>A (p.Thr189Asn) rs1377082706

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