ClinVar Miner

List of variants reported as uncertain significance for Febrile seizures, familial, 8

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val) rs772800839 0.00002
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063
NM_198904.4(GABRG2):c.632-5G>A rs1761614864
NM_198904.4(GABRG2):c.830T>C (p.Ile277Thr)
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)

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