ClinVar Miner

List of variants studied for epilepsy by Paris Brain Institute, Inserm - ICM

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00036
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu) rs727504706 0.00003
NM_014592.4(KCNIP1):c.328G>A (p.Asp110Asn) rs1763869544 0.00001
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser) rs757560169 0.00001
NM_020771.4(HACE1):c.239G>A (p.Cys80Tyr) rs1319508199
NM_032119.4(ADGRV1):c.17195C>T (p.Pro5732Leu) rs2150388869
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser) rs188772875

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