ClinVar Miner

List of variants reported as likely benign for Hereditary diffuse leukoencephalopathy with spheroids by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.2508C>T (p.Ser836=) rs146691087 0.00013
NM_001288705.3(CSF1R):c.895G>A (p.Ala299Thr) rs370361925 0.00011
NM_001288705.3(CSF1R):c.1520C>T (p.Thr507Met) rs538359948 0.00006
NM_001288705.3(CSF1R):c.2166C>T (p.Thr722=) rs376570011 0.00006
NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg) rs281860278 0.00006
NM_001288705.3(CSF1R):c.*721_*724del rs543445510 0.00002
NM_001288705.3(CSF1R):c.2165C>A (p.Thr722Asn) rs371017407 0.00002
NM_001288705.3(CSF1R):c.2258G>A (p.Arg753Gln) rs560352241 0.00002
NM_001288705.3(CSF1R):c.1319+12C>T rs374820982 0.00001
NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu) rs761624770 0.00001
NM_001288705.3(CSF1R):c.1587G>A (p.Leu529=) rs776636931 0.00001
NM_001288705.3(CSF1R):c.641G>A (p.Arg214Gln) rs376495524 0.00001
NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) rs754023795 0.00001
NM_001288705.3(CSF1R):c.1510+13C>G rs533789269
NM_001288705.3(CSF1R):c.49+14G>C rs770236615
NM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr) rs41338945

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