ClinVar Miner

List of variants reported as uncertain significance for genetic generalized epilepsy by OMIM

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) rs121908920 0.00004
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918 0.00004
NM_001365536.1(SCN9A):c.446C>A (p.Pro149Gln) rs121908921
NM_004366.6(CLCN2):c.221-14_221-4del rs515726132
NM_018100.3(EFHC1):c.[229C>A;662G>A]

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