List of variants in gene HCN1 reported as pathogenic for hereditary generalized epilepsy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_021072.4(HCN1):c.1169T>C (p.Val390Ala)	rs2112040676
NM_021072.4(HCN1):c.1171G>A (p.Gly391Ser)	rs1561139569
NM_021072.4(HCN1):c.1184C>G (p.Ala395Gly)	rs2112040633
NM_021072.4(HCN1):c.1240G>A (p.Val414Met)	rs1561120793
NM_021072.4(HCN1):c.1769G>A (p.Arg590Gln)	rs1561081319
NM_021072.4(HCN1):c.469C>G (p.Leu157Val)	rs1561230606
NM_021072.4(HCN1):c.728T>G (p.Met243Arg)	rs1561230486
NM_021072.4(HCN1):c.986G>C (p.Cys329Ser)	rs1318391259

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