List of variants in gene UNC45B reported as pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001267052.2(UNC45B):c.2326C>T (p.Arg776Trp)	rs199583516	0.00016
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)	rs139715157	0.00012
NM_001267052.2(UNC45B):c.1540T>C (p.Cys514Arg)	rs775340790	0.00001
NM_001267052.2(UNC45B):c.1207T>C (p.Ser403Pro)	rs2092154042
NM_001267052.2(UNC45B):c.2255+5G>C	rs2092244236

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