ClinVar Miner

List of variants in gene combination CHRNA4, LOC100130587 reported as uncertain significance for Autosomal dominant nocturnal frontal lobe epilepsy

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) rs1025632281 0.00006
NM_000744.7(CHRNA4):c.14G>T (p.Gly5Val) rs946142547
NM_000744.7(CHRNA4):c.14del (p.Gly5fs) rs2068814247
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) rs796052312
NM_000744.7(CHRNA4):c.19G>A (p.Gly7Arg)
NM_000744.7(CHRNA4):c.1A>T (p.Met1Leu) rs1359272155
NM_000744.7(CHRNA4):c.20G>A (p.Gly7Glu)
NM_000744.7(CHRNA4):c.25C>T (p.Pro9Ser)
NM_000744.7(CHRNA4):c.27_28delinsAG (p.Arg10Gly)
NM_000744.7(CHRNA4):c.28C>G (p.Arg10Gly) rs2068813671
NM_000744.7(CHRNA4):c.28_29delinsTT (p.Arg10Leu)
NM_000744.7(CHRNA4):c.29_40dup (p.Pro13_Pro14insArgLeuLeuPro)
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.7(CHRNA4):c.2T>C (p.Met1Thr) rs2068814460
NM_000744.7(CHRNA4):c.38_52del (p.Pro13_Leu17del) rs771936944
NM_000744.7(CHRNA4):c.42GCT[5] (p.Leu19dup) rs1053984520
NM_000744.7(CHRNA4):c.44T>C (p.Leu15Pro) rs886044055
NM_000744.7(CHRNA4):c.4G>C (p.Glu2Gln) rs2145412501
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup) rs2068812649
NM_000744.7(CHRNA4):c.57G>A (p.Leu19=) rs927241644
NM_000744.7(CHRNA4):c.74G>A (p.Arg25His)
NM_000744.7(CHRNA4):c.76+1G>A rs2068812210
NM_000744.7(CHRNA4):c.8T>A (p.Leu3Gln) rs2145412488

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