ClinVar Miner

List of variants reported as likely benign for autosomal recessive degenerative and progressive cerebellar ataxia

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_017791.3(FLVCR2):c.*187T>C rs75002047 0.01000
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_014053.4(FLVCR1):c.*2860C>A rs138737189 0.00702
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_014053.4(FLVCR1):c.*166G>A rs41301017 0.00378
NM_014053.4(FLVCR1):c.-87G>A rs41296692 0.00374
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile) rs144192049 0.00310
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser) rs34214251 0.00222
NM_022464.5(SIL1):c.1030-14G>A rs184154914 0.00138
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00119
NM_014053.4(FLVCR1):c.*1300A>G rs186133334 0.00109
NM_017791.3(FLVCR2):c.*1517T>C rs114442666 0.00106
NM_014053.4(FLVCR1):c.*284G>A rs41301021 0.00080
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00031
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_022464.5(SIL1):c.1206C>T (p.Gly402=) rs146164392 0.00027
NM_022464.5(SIL1):c.430A>G (p.Met144Val) rs199707852 0.00026
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00026
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00025
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00024
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00023
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 0.00021
NM_017791.3(FLVCR2):c.*1319C>T rs541678412 0.00020
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_022464.5(SIL1):c.666G>T (p.Leu222=) rs369480148 0.00018
NM_022464.5(SIL1):c.196G>A (p.Val66Ile) rs147194912 0.00017
NM_022464.5(SIL1):c.865-14G>T rs1260898605 0.00015
NM_014053.4(FLVCR1):c.*2887C>T rs186854246 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_022464.5(SIL1):c.1326C>T (p.Asp442=) rs375567857 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_022464.5(SIL1):c.768-15G>T rs769011198 0.00008
NM_022464.5(SIL1):c.1023G>A (p.Thr341=) rs147974182 0.00007
NM_022464.5(SIL1):c.135G>A (p.Lys45=) rs1197539689 0.00007
NM_022464.5(SIL1):c.1030-19C>T rs779265176 0.00005
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_022464.5(SIL1):c.9C>G (p.Pro3=) rs369172475 0.00005
NM_022464.5(SIL1):c.348C>G (p.Gly116=) rs758505454 0.00004
NM_022464.5(SIL1):c.1029+14C>T rs779355123 0.00003
NM_022464.5(SIL1):c.454-8C>T rs760451548 0.00003
NM_022464.5(SIL1):c.477G>C (p.Arg159=) rs1223776534 0.00003
NM_022464.5(SIL1):c.645+16G>A rs755743227 0.00003
NM_022464.5(SIL1):c.767+19G>A rs551887742 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_022464.5(SIL1):c.987C>T (p.Ala329=) rs758596676 0.00003
NM_022464.5(SIL1):c.993C>T (p.Arg331=) rs201009798 0.00003
NM_022464.5(SIL1):c.1030-6T>G rs750904029 0.00002
NM_022464.5(SIL1):c.132G>A (p.Glu44=) rs909846146 0.00002
NM_022464.5(SIL1):c.453+14T>C rs563707017 0.00002
NM_022464.5(SIL1):c.516T>C (p.Asp172=) rs778333950 0.00002
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1618G>A (p.Gly540Arg) rs568256888 0.00001
NM_022464.5(SIL1):c.1005G>A (p.Leu335=) rs751082361 0.00001
NM_022464.5(SIL1):c.1008C>G (p.Leu336=) rs374076564 0.00001
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=) rs1473605577 0.00001
NM_022464.5(SIL1):c.1029+15C>T rs755390396 0.00001
NM_022464.5(SIL1):c.1030-10C>T rs780316556 0.00001
NM_022464.5(SIL1):c.1038C>T (p.Ala346=) rs371273360 0.00001
NM_022464.5(SIL1):c.105+20A>G rs1168235941 0.00001
NM_022464.5(SIL1):c.1095C>T (p.Arg365=) rs1268341539 0.00001
NM_022464.5(SIL1):c.1146G>A (p.Thr382=) rs778425533 0.00001
NM_022464.5(SIL1):c.1218C>A (p.Thr406=) rs1320201776 0.00001
NM_022464.5(SIL1):c.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.1368G>A (p.Leu456=) rs777827443 0.00001
NM_022464.5(SIL1):c.1380G>C (p.Leu460=) rs878963813 0.00001
NM_022464.5(SIL1):c.216G>A (p.Pro72=) rs750439304 0.00001
NM_022464.5(SIL1):c.219G>A (p.Thr73=) rs767616943 0.00001
NM_022464.5(SIL1):c.244+17T>C rs1487582553 0.00001
NM_022464.5(SIL1):c.244+8G>A rs1464263076 0.00001
NM_022464.5(SIL1):c.245-15C>A rs764284363 0.00001
NM_022464.5(SIL1):c.267C>A (p.Ser89=) rs376493441 0.00001
NM_022464.5(SIL1):c.454-10C>G rs766089372 0.00001
NM_022464.5(SIL1):c.471A>T (p.Val157=) rs920873110 0.00001
NM_022464.5(SIL1):c.585C>T (p.Ser195=) rs1440658918 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.729G>A (p.Lys243=) rs147607224 0.00001
NM_022464.5(SIL1):c.72C>T (p.Ala24=) rs763889982 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 0.00001
NM_022464.5(SIL1):c.767+18C>T rs566298874 0.00001
NM_022464.5(SIL1):c.795C>T (p.Ile265=) rs746589509 0.00001
NM_022464.5(SIL1):c.807C>T (p.Ala269=) rs200359743 0.00001
NM_022464.5(SIL1):c.837G>A (p.Thr279=) rs1035913513 0.00001
NM_022464.5(SIL1):c.846G>A (p.Pro282=) rs767706941 0.00001
NM_022464.5(SIL1):c.864+20C>G rs765908702 0.00001
NM_022464.5(SIL1):c.921C>T (p.Phe307=) rs1359839387 0.00001
NC_000001.11:g.212899378_212899379del rs148146820
NG_008845.2:g.6743_6746delinsGAAGGA[66]GAAG
NM_004715.5(CTDP1):c.2649G>A (p.Glu883=) rs2086667654
NM_014053.4(FLVCR1):c.*2061CA[13] rs139242973
NM_022464.5(SIL1):c.-94G>C rs529012685
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1029+12_1029+17del rs1766763897
NM_022464.5(SIL1):c.1030-9G>T rs370290043
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
NM_022464.5(SIL1):c.105+8T>C
NM_022464.5(SIL1):c.1071C>T (p.Ser357=) rs1766660391
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=) rs754574746
NM_022464.5(SIL1):c.1218C>T (p.Thr406=) rs1320201776
NM_022464.5(SIL1):c.1263A>G (p.Thr421=) rs1157233880
NM_022464.5(SIL1):c.1275G>A (p.Leu425=)
NM_022464.5(SIL1):c.1317T>C (p.Asp439=) rs2534008308
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
NM_022464.5(SIL1):c.199C>T (p.Leu67=) rs2546421805
NM_022464.5(SIL1):c.213C>T (p.His71=)
NM_022464.5(SIL1):c.244+11del rs1202121047
NM_022464.5(SIL1):c.255C>T (p.Val85=) rs1769273601
NM_022464.5(SIL1):c.261A>G (p.Ala87=) rs2546366602
NM_022464.5(SIL1):c.270C>T (p.His90=)
NM_022464.5(SIL1):c.276G>A (p.Arg92=) rs1033068685
NM_022464.5(SIL1):c.353+12A>G rs755370414
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
NM_022464.5(SIL1):c.454-8C>G
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=) rs899502101
NM_022464.5(SIL1):c.63G>A (p.Leu21=) rs2546427639
NM_022464.5(SIL1):c.645+15C>T rs376395729
NM_022464.5(SIL1):c.645+16G>T rs755743227
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.753C>T (p.Gly251=) rs372589994
NM_022464.5(SIL1):c.804A>T (p.Gly268=)
NM_022464.5(SIL1):c.810G>A (p.Leu270=) rs1244661386
NM_022464.5(SIL1):c.819G>A (p.Leu273=) rs778802859
NM_022464.5(SIL1):c.829C>T (p.Leu277=) rs2534020742
NM_022464.5(SIL1):c.846G>C (p.Pro282=) rs767706941
NM_022464.5(SIL1):c.864+11A>C rs2534020460
NM_022464.5(SIL1):c.864+14C>A rs1766783857
NM_022464.5(SIL1):c.865-10G>C
NM_022464.5(SIL1):c.865-15G>A
NM_022464.5(SIL1):c.945C>A (p.Val315=) rs142116239
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475

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