ClinVar Miner

List of variants reported as benign for Hereditary spastic paraplegia 50 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.544-75T>C rs4729577 0.58473
NM_004722.4(AP4M1):c.147+35T>C rs2293481 0.58444
NM_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
NM_004722.4(AP4M1):c.1025+44T>C rs2293479 0.26357

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