ClinVar Miner

List of variants in gene CHRNA1 studied for congenital myasthenic syndrome 1A

Included ClinVar conditions (3):
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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.235-385C>T rs2646164 0.99734
NM_000079.4(CHRNA1):c.1003-53A>G rs2646159 0.87287
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000079.4(CHRNA1):c.526G>A (p.Val176Met) rs137852799 0.00001
NM_000079.4(CHRNA1):c.685C>T (p.Arg229Cys) rs745355427 0.00001
NM_000079.4(CHRNA1):c.913G>A (p.Val305Ile) rs137852804 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000079.4(CHRNA1):c.1003G>T (p.Val335Phe)
NM_000079.4(CHRNA1):c.1314C>G (p.Cys438Trp) rs137852808
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
NM_000079.4(CHRNA1):c.235-353G>A rs2105350984
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.43+59G>T rs7560774
NM_000079.4(CHRNA1):c.441del (p.Cys148fs)
NM_000079.4(CHRNA1):c.454G>C (p.Val152Leu) rs137852807
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.711C>G (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.746C>A (p.Thr249Asn)
NM_000079.4(CHRNA1):c.757T>G (p.Phe253Val) rs137852805
NM_000079.4(CHRNA1):c.766C>A (p.Pro256Thr) rs1683899724
NM_000079.4(CHRNA1):c.805G>T (p.Val269Phe) rs137852803
NM_000079.4(CHRNA1):c.821C>T (p.Thr274Ile) rs137852800
NM_000079.4(CHRNA1):c.826T>C (p.Phe276Leu) rs137852806
NM_000079.4(CHRNA1):c.866G>T (p.Ser289Ile) rs137852802
NM_000079.4(CHRNA1):c.902C>G (p.Thr301Ser) rs2105345315

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