ClinVar Miner

List of variants reported as benign for Hereditary diffuse leukoencephalopathy with spheroids by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) rs2228422 0.47995
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) rs216123 0.46517
NM_001288705.3(CSF1R):c.1626+7C>T rs34928010 0.13020
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) rs10079250 0.08472
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157

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