ClinVar Miner

List of variants studied for Hereditary diffuse leukoencephalopathy with spheroids by GeneReviews

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) rs690016565 0.00005
NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) rs690016546
NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) rs690016563
NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) rs690016547
NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg) rs690016559
NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr) rs397515555
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) rs587777245
NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp) rs690016566
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp) rs397515556
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) rs690016548
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) rs587777247
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val) rs587777247
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) rs690016564
NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr) rs690016561
NM_001288705.3(CSF1R):c.2442+1G>T rs587777246
NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) rs690016549
NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr) rs690016550
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser) rs397515557
NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu) rs690016557
NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe) rs690016558
NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) rs690016555
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) rs690016551
NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) rs690016552
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_001288705.3(CSF1R):c.2655-2A>G rs690016554
NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser) rs690016553
NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr) rs690016560
NM_005211.3(CSF1R):c.2467C>T rs690016562

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