ClinVar Miner

List of variants reported as uncertain significance for Hereditary diffuse leukoencephalopathy with spheroids

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.*234del rs376905470 0.03884
NM_001288705.3(CSF1R):c.*531C>T rs367836988 0.00104
NM_001288705.3(CSF1R):c.*715C>T rs572860735 0.00025
NM_005211.4(CSF1R):c.-200C>T rs1282627420 0.00019
NM_001288705.3(CSF1R):c.1716C>T (p.Asn572=) rs772750557 0.00017
NM_001288705.3(CSF1R):c.*116C>T rs188032016 0.00007
NM_001288705.3(CSF1R):c.*249A>G rs543512013 0.00007
NM_001288705.3(CSF1R):c.1111C>T (p.Leu371=) rs556530627 0.00006
NM_001288705.3(CSF1R):c.1131C>T (p.Gly377=) rs369678672 0.00006
NM_005211.4(CSF1R):c.-199G>A rs886060260 0.00005
NM_001288705.3(CSF1R):c.-115C>A rs1322187142 0.00004
NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) rs370648666 0.00004
NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) rs767351282 0.00003
NM_001288705.3(CSF1R):c.-102C>T rs886060259 0.00002
NM_001288705.3(CSF1R):c.2763+7G>A rs371729310 0.00002
NM_001288705.3(CSF1R):c.449G>A (p.Arg150His) rs1029057991 0.00002
NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) rs780547939 0.00002
NM_001288705.3(CSF1R):c.*101T>C rs1757050261 0.00001
NM_001288705.3(CSF1R):c.*733G>A rs1263927433 0.00001
NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) rs767546915 0.00001
NM_001288705.3(CSF1R):c.1220T>C (p.Ile407Thr) rs372924085 0.00001
NM_001288705.3(CSF1R):c.1518C>T (p.His506=) rs1757872206 0.00001
NM_001288705.3(CSF1R):c.2613T>G (p.Asp871Glu) rs778711104 0.00001
NM_001288705.3(CSF1R):c.2622A>C (p.Gln874His) rs886060255 0.00001
NM_001288705.3(CSF1R):c.2654+12G>T rs1252952936 0.00001
NM_001288705.3(CSF1R):c.2796C>T (p.Ser932=) rs778420941 0.00001
NM_001288705.3(CSF1R):c.2906_2909dup (p.Phe971fs) rs766047383 0.00001
NM_001288705.3(CSF1R):c.354C>T (p.Phe118=) rs750046493 0.00001
NM_001288705.3(CSF1R):c.*156G>A rs886060254
NM_001288705.3(CSF1R):c.*230C>A rs373205661
NM_001288705.3(CSF1R):c.*232C>G rs952163871
NM_001288705.3(CSF1R):c.*232_*233dup rs200927456
NM_001288705.3(CSF1R):c.*233C>A rs1034592507
NM_001288705.3(CSF1R):c.*263G>C rs1031187832
NM_001288705.3(CSF1R):c.*35_*36delinsTC rs386693509
NM_001288705.3(CSF1R):c.*530C>A rs1046339426
NM_001288705.3(CSF1R):c.*539C>A rs373206666
NM_001288705.3(CSF1R):c.*561C>T rs886060253
NM_001288705.3(CSF1R):c.*56G>A rs745652939
NM_001288705.3(CSF1R):c.*5T>C rs894716510
NM_001288705.3(CSF1R):c.*619G>T rs1757015333
NM_001288705.3(CSF1R):c.*749C>T rs564262683
NM_001288705.3(CSF1R):c.*768T>G rs1757001567
NM_001288705.3(CSF1R):c.-101G>T rs560184933
NM_001288705.3(CSF1R):c.-2C>T rs1758849505
NM_001288705.3(CSF1R):c.1198+19C>A rs201460285
NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) rs886060257
NM_001288705.3(CSF1R):c.1753+15C>T rs886060256
NM_001288705.3(CSF1R):c.1754-3C>G rs2113792152
NM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly) rs2113790136
NM_001288705.3(CSF1R):c.195C>T (p.Ser65=) rs1758508357
NM_001288705.3(CSF1R):c.2132+8del rs776168370
NM_001288705.3(CSF1R):c.2136C>T (p.Asp712=) rs772656669
NM_001288705.3(CSF1R):c.2217G>T (p.Glu739Asp) rs199915312
NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) rs1581279568
NM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg) rs2113776517
NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) rs1757090477
NM_001288705.3(CSF1R):c.299A>G (p.Tyr100Cys) rs1413974974
NM_001288705.3(CSF1R):c.307+5G>A rs886060258
NM_001288705.3(CSF1R):c.337C>G (p.Gln113Glu) rs1758477235
NM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys) rs1187678502
NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln) rs2113823831

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