ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Athena Diagnostics Inc

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_005670.3(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_018100.3(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.3(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770
NM_018100.3(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.3(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.3(EFHC1):c.545G>A (p.Arg182His) rs3804505
NM_018100.3(EFHC1):c.573+10A>G rs9349626
NM_018100.3(EFHC1):c.881G>A (p.Arg294His) rs1570624
NM_198586.2(NHLRC1):c.312T>C (p.His104=) rs115931931

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