ClinVar Miner

List of variants studied for Hereditary diffuse leukoencephalopathy with spheroids

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Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.*36A>C rs2066934 0.82488
NM_001288705.3(CSF1R):c.*35C>T rs2066933 0.82461
NM_001288705.3(CSF1R):c.2133-35G>C rs216138 0.82067
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.2442+23C>T rs216136 0.45604
NM_001288705.3(CSF1R):c.*769A>G rs3828609 0.16291
NM_001288705.3(CSF1R):c.1626+7C>T rs34928010 0.13020
NM_001288705.3(CSF1R):c.*310C>A rs41497048 0.10361
NM_001288705.3(CSF1R):c.*512T>C rs13117 0.09042
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) rs10079250 0.08472
NM_001288705.3(CSF1R):c.*234del rs376905470 0.03884
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
NM_001288705.3(CSF1R):c.1626+12C>T rs116168767 0.01490
NM_001288705.3(CSF1R):c.1083-8T>C rs41428145 0.01068
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) rs34951517 0.00996
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) rs79702016 0.00855
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 0.00742
NM_005211.4(CSF1R):c.-187G>A rs11740408 0.00684
NM_001288705.3(CSF1R):c.*604A>G rs150244467 0.00631
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
NM_001288705.3(CSF1R):c.*405G>C rs1058920 0.00386
NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp) rs34030164 0.00332
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) rs56048668 0.00332
NM_001288705.3(CSF1R):c.1552G>A (p.Val518Met) rs138432536 0.00329
NM_001288705.3(CSF1R):c.*64C>T rs144642625 0.00270
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) rs41287092 0.00258
NM_005211.4(CSF1R):c.-249G>A rs180988739 0.00234
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr) rs150475750 0.00198
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) rs56005231 0.00146
NM_001288705.3(CSF1R):c.1626+3G>A rs41424145 0.00137
NM_001288705.3(CSF1R):c.802G>A (p.Val268Ile) rs143274491 0.00107
NM_001288705.3(CSF1R):c.*531C>T rs367836988 0.00104
NM_001288705.3(CSF1R):c.2805C>T (p.Ser935=) rs147476583 0.00102
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) rs3829986 0.00089
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) rs146406037 0.00086
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=) rs56282370 0.00081
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) rs149168939 0.00067
NM_001288705.3(CSF1R):c.*774A>G rs371174880 0.00058
NM_001288705.3(CSF1R):c.178C>T (p.Leu60=) rs55865465 0.00048
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001288705.3(CSF1R):c.*715C>T rs572860735 0.00025
NM_001288705.3(CSF1R):c.*532G>A rs527300272 0.00024
NM_001288705.3(CSF1R):c.593-9C>T rs191671408 0.00023
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.1404G>A (p.Val468=) rs201654254 0.00016
NM_001288705.3(CSF1R):c.1929C>T (p.His643=) rs184499252 0.00015
NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=) rs567201624 0.00014
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.2761C>T (p.Arg921Trp) rs202216061 0.00010
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_001288705.3(CSF1R):c.1520C>T (p.Thr507Met) rs538359948 0.00006
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His) rs201569135 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.1216G>A (p.Val406Ile) rs377213618 0.00005
NM_001288705.3(CSF1R):c.224C>T (p.Thr75Ile) rs748096324 0.00005
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) rs690016565 0.00005
NM_005211.4(CSF1R):c.-199G>A rs886060260 0.00005
NM_001288705.3(CSF1R):c.*199A>G rs138239430 0.00004
NM_001288705.3(CSF1R):c.-115C>A rs1322187142 0.00004
NM_001288705.3(CSF1R):c.1606C>G (p.Leu536Val) rs55942044 0.00004
NM_001288705.3(CSF1R):c.2499G>A (p.Thr833=) rs149872699 0.00004
NM_001288705.3(CSF1R):c.2886C>T (p.Pro962=) rs370648666 0.00004
NM_001288705.3(CSF1R):c.943G>A (p.Val315Met) rs756763314 0.00004
NM_001288705.3(CSF1R):c.-25T>A rs375640786 0.00003
NM_001288705.3(CSF1R):c.1560C>T (p.Val520=) rs767351282 0.00003
NM_001288705.3(CSF1R):c.*221C>T rs574587482 0.00002
NM_001288705.3(CSF1R):c.*500C>T rs138905856 0.00002
NM_001288705.3(CSF1R):c.*721_*724del rs543445510 0.00002
NM_001288705.3(CSF1R):c.-102C>T rs886060259 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.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.1319+12C>T rs374820982 0.00001
NM_001288705.3(CSF1R):c.13G>C (p.Val5Leu) rs761624770 0.00001
NM_001288705.3(CSF1R):c.1518C>T (p.His506=) rs1757872206 0.00001
NM_001288705.3(CSF1R):c.1587G>A (p.Leu529=) rs776636931 0.00001
NM_001288705.3(CSF1R):c.1728G>A (p.Glu576=) rs549280708 0.00001
NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) rs1403823146 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.641G>A (p.Arg214Gln) rs376495524 0.00001
NM_001288705.3(CSF1R):c.720C>G (p.Asn240Lys) rs754023795 0.00001
NM_001288705.3(CSF1R):c.*156G>A rs886060254
NM_001288705.3(CSF1R):c.*230C>A rs373205661
NM_001288705.3(CSF1R):c.*231C>G rs78449650
NM_001288705.3(CSF1R):c.*231_*232insG rs3216780
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.1069A>T (p.Lys357Ter) rs767475362
NM_001288705.3(CSF1R):c.1198+19C>A rs201460285
NM_001288705.3(CSF1R):c.1306G>A (p.Gly436Ser) rs886060257
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.1510+13C>G rs533789269
NM_001288705.3(CSF1R):c.1699del (p.Thr567fs) rs690016546
NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro) rs690016563
NM_001288705.3(CSF1R):c.1753+15C>T rs886060256
NM_001288705.3(CSF1R):c.1754-2A>G rs281860267
NM_001288705.3(CSF1R):c.1754-3C>G rs2113792152
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) rs1757529135
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) rs1757528753
NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg) rs690016547
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) rs281860269
NM_001288705.3(CSF1R):c.1898A>G (p.Glu633Gly) rs2113790136
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.195C>T (p.Ser65=) rs1758508357
NM_001288705.3(CSF1R):c.1969+1G>A rs1757478199
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) rs587777245
NM_001288705.3(CSF1R):c.2132+5C>T rs17110908
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.2239G>A (p.Gly747Arg) rs41355444
NM_001288705.3(CSF1R):c.225C>T (p.Thr75=) rs781021919
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.2344C>T (p.Arg782Cys) rs2113779576
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His) rs281860281
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.2381T>C (p.Ile794Thr) rs281860274
NM_001288705.3(CSF1R):c.2442+1G>T rs587777246
NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro) rs690016549
NM_001288705.3(CSF1R):c.2467G>A (p.Ala823Thr) rs2113778666
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.2498C>A (p.Thr833Lys) rs780804532
NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr) rs387906662
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.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle) rs1561904557
NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn) rs690016555
NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro) rs1581279568
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp) rs690016551
NM_001288705.3(CSF1R):c.2563C>T (p.Pro855Ser) rs2113776541
NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His) rs690016552
NM_001288705.3(CSF1R):c.2570C>G (p.Pro857Arg) rs2113776517
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) rs281860279
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_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) rs1757090477
NM_001288705.3(CSF1R):c.2762G>C (p.Arg921Pro) rs56059682
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.49+14G>C rs770236615
NM_001288705.3(CSF1R):c.497G>A (p.Arg166Lys) rs1187678502
NM_001288705.3(CSF1R):c.733G>A (p.Ala245Thr) rs41338945
NM_001288705.3(CSF1R):c.889G>C (p.Glu297Gln) rs2113823831
NM_001605.3(AARS1):c.455G>T (p.Cys152Phe) rs2152166694
NM_005211.3(CSF1R):c.2467C>T rs690016562
NM_005211.4(CSF1R):c.-230GAAGAG[3] rs796927717

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