ClinVar Miner

List of variants reported as uncertain significance for variable-age onset idiopathic generalized epilepsy syndrome by New York Genome Center

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00020
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_000726.5(CACNB4):c.147+14751T>C rs915286423 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val) rs2151358415
NM_018100.4(EFHC1):c.21T>A (p.His7Gln) rs775530837

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