ClinVar Miner

List of variants in gene CACNB4 reported as likely benign for Idiopathic generalized epilepsy

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_000726.5(CACNB4):c.186C>T (p.Ser62=) rs371263141 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_000726.5(CACNB4):c.1302+7T>C rs200945311 0.00004
NM_000726.5(CACNB4):c.438T>C (p.Cys146=) rs373311758 0.00004
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000726.5(CACNB4):c.1021-9T>C rs1291994687 0.00001
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=) rs767662214 0.00001
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=) rs749277227 0.00001
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=) rs779464772 0.00001
NM_000726.5(CACNB4):c.1554T>C (p.His518=) rs766933826 0.00001
NM_000726.5(CACNB4):c.156G>A (p.Ala52=) rs764332480 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_000726.5(CACNB4):c.869-5T>G rs796052289 0.00001
NM_000726.5(CACNB4):c.930T>C (p.Val310=) rs748444028 0.00001
NM_000726.5(CACNB4):c.984A>G (p.Ala328=) rs532162701 0.00001
NM_000726.5(CACNB4):c.1021-7C>T rs2151353341
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=) rs529832815
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=) rs927678994
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=) rs369276166
NM_000726.5(CACNB4):c.1509T>C (p.His503=) rs1060503173
NM_000726.5(CACNB4):c.391-9G>A rs1342246691
NM_000726.5(CACNB4):c.465C>T (p.Leu155=) rs2151429916
NM_000726.5(CACNB4):c.582A>T (p.Ala194=) rs776968687
NM_000726.5(CACNB4):c.598+9T>G rs1578558910
NM_000726.5(CACNB4):c.780A>C (p.Thr260=) rs2151376464

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