ClinVar Miner

List of variants in gene CHRNB2 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr)
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val)
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) rs141689121
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) rs1557850747
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu)
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys)
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) rs1409415937
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr) rs1557852162
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) rs1225745274
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) rs774449832
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) rs1187024375
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) rs1557852381
NM_000748.3(CHRNB2):c.1338+3G>T rs886348487
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter)
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val)
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) rs1297214421
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) rs1206411079
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) rs1553204015
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)
NM_000748.3(CHRNB2):c.255+6C>T
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) rs144508607
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp)
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) rs1060502835
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) rs1557851437
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys)
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His)
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) rs201622476
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys)
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) rs780175030
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) rs752986234
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) rs780184576
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) rs373676452
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) rs143402032
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) rs1212070745
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser)
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg)
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) rs1207496178

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