ClinVar Miner

List of variants reported as likely benign for electroclinical syndrome by Mendelics

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930

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