ClinVar Miner

List of variants in gene CHRNB2 reported as benign for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000748.3(CHRNB2):c.210+9A>G rs3926124 0.10829
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378 0.07732
NM_000748.2(CHRNB2):c.-296G>A rs2072658 0.01801
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) rs8192486 0.00058
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) rs149921259 0.00039
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) rs138886952 0.00024
NM_000748.3(CHRNB2):c.483C>T (p.His161=) rs190967991 0.00016
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693 0.00011
NM_000748.3(CHRNB2):c.211-13T>C rs201514937 0.00008
NM_000748.3(CHRNB2):c.1339-16C>T rs117167810 0.00005
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=) rs151054217 0.00004
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) rs201514209 0.00001
NM_000748.3(CHRNB2):c.1434C>A (p.Phe478Leu)
NM_000748.3(CHRNB2):c.255+7G>C rs190374968

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