ClinVar Miner

List of variants studied for Thomsen and Becker disease by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1167-10T>C rs543120965 0.00004
NM_000083.3(CLCN1):c.1444G>A (p.Gly482Arg) rs746125212 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys) rs121912805 0.00001
NM_000083.3(CLCN1):c.1472G>A (p.Gly491Glu)
NM_000083.3(CLCN1):c.2365-1G>T
NM_000083.3(CLCN1):c.2550C>A (p.Tyr850Ter)
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.860T>C (p.Leu287Pro)

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