ClinVar Miner

List of variants in gene CHRNB1 reported as pathogenic for congenital myasthenic syndrome

Included ClinVar conditions (53):
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_000747.3(CHRNB1):c.516C>G (p.Tyr172Ter) rs201033437 0.00004
NM_000747.3(CHRNB1):c.248G>A (p.Trp83Ter) rs766823872 0.00002
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
NC_000017.10:g.(7352108_7357615)_(7357840_7358602)del
NC_000017.11:g.(?_7454277)_(7454540_?)del
NC_000017.11:g.(?_7454287)_(7454530_?)del
NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)
NM_000747.3(CHRNB1):c.1102_1103del (p.Asp368fs)
NM_000747.3(CHRNB1):c.1218-9_1218-7del rs781689096
NM_000747.3(CHRNB1):c.1347_1355del (p.Glu449_Glu451del)
NM_000747.3(CHRNB1):c.605dup (p.Ile203fs) rs1447564693
NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys) rs199875082
NM_000747.3(CHRNB1):c.759dup (p.Ala254fs) rs2150839428
NM_000747.3(CHRNB1):c.823G>T (p.Glu275Ter) rs1908992563
NM_000747.3(CHRNB1):c.853C>A (p.Leu285Met) rs137852811
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) rs137852810
NM_000747.3(CHRNB1):c.866T>C (p.Val289Ala) rs1908994498
NM_000747.3(CHRNB1):c.883del (p.Ala295fs) rs780391043

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