ClinVar Miner

List of variants in gene TNPO3 reported as pathogenic for autosomal dominant limb-girdle muscular dystrophy type 1F

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter) rs1804050408
NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro) rs587777431
NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?) rs587777430

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