ClinVar Miner

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

Included ClinVar conditions (11):
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.-87G>A rs41296692 0.00410
NM_014053.4(FLVCR1):c.*166G>A rs41301017 0.00378
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 0.00148
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_017791.3(FLVCR2):c.*1517T>C rs114442666 0.00113
NM_014053.4(FLVCR1):c.*1300A>G rs186133334 0.00096
NM_014053.4(FLVCR1):c.*284G>A rs41301021 0.00080
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_022464.5(SIL1):c.1161G>A (p.Ala387=) rs140171020 0.00033
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
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 0.00028
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_014053.4(FLVCR1):c.*2887C>T rs186854246 0.00011
NM_014053.4(FLVCR1):c.1525+12C>T rs372644357 0.00011
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 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.993C>T (p.Arg331=) rs201009798 0.00009
NM_022464.5(SIL1):c.1029+7G>A rs371041584 0.00008
NM_022464.5(SIL1):c.1125A>G (p.Glu375=) rs149424114 0.00005
NM_017791.3(FLVCR2):c.*1319C>T rs541678412 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_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.1347G>A (p.Leu449=) rs1458642130 0.00001
NM_022464.5(SIL1):c.69C>T (p.Ala23=) rs756893810 0.00001
NM_022464.5(SIL1):c.741G>A (p.Ala247=) rs773520401 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
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
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
NM_022464.5(SIL1):c.1029+12_1029+17del
NM_022464.5(SIL1):c.1029+14C>T
NM_022464.5(SIL1):c.1029+15C>T
NM_022464.5(SIL1):c.1030-10C>T
NM_022464.5(SIL1):c.1030-19C>T
NM_022464.5(SIL1):c.1030-6T>G
NM_022464.5(SIL1):c.1030-9G>T
NM_022464.5(SIL1):c.1035C>T (p.Phe345=)
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
NM_022464.5(SIL1):c.105+20A>G
NM_022464.5(SIL1):c.105+8T>C
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
NM_022464.5(SIL1):c.1086G>A (p.Gln362=)
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
NM_022464.5(SIL1):c.1107C>T (p.Leu369=)
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
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=)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.1356T>C (p.Ser452=)
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
NM_022464.5(SIL1):c.213C>T (p.His71=)
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
NM_022464.5(SIL1):c.244+11del
NM_022464.5(SIL1):c.244+17T>C
NM_022464.5(SIL1):c.244+8G>A
NM_022464.5(SIL1):c.245-15C>A
NM_022464.5(SIL1):c.255C>T (p.Val85=)
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
NM_022464.5(SIL1):c.270C>T (p.His90=)
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
NM_022464.5(SIL1):c.353+12A>G
NM_022464.5(SIL1):c.366C>T (p.Asn122=)
NM_022464.5(SIL1):c.369C>G (p.Thr123=)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.453+14T>C
NM_022464.5(SIL1):c.454-10C>G
NM_022464.5(SIL1):c.454-8C>G
NM_022464.5(SIL1):c.454-8C>T
NM_022464.5(SIL1):c.471A>T (p.Val157=)
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
NM_022464.5(SIL1):c.60G>A (p.Leu20=)
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.645+16G>A
NM_022464.5(SIL1):c.645+16G>T
NM_022464.5(SIL1):c.657G>A (p.Ala219=)
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
NM_022464.5(SIL1):c.69C>G (p.Ala23=)
NM_022464.5(SIL1):c.714A>G (p.Thr238=) rs1581036406
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
NM_022464.5(SIL1):c.767+18C>T
NM_022464.5(SIL1):c.767+19G>A
NM_022464.5(SIL1):c.768-15G>T
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=)
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
NM_022464.5(SIL1):c.864+11A>C
NM_022464.5(SIL1):c.864+14C>A
NM_022464.5(SIL1):c.864+20C>G
NM_022464.5(SIL1):c.865-10G>C
NM_022464.5(SIL1):c.865-14G>T
NM_022464.5(SIL1):c.865-15G>A
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
NM_022464.5(SIL1):c.945C>A (p.Val315=)
NM_022464.5(SIL1):c.975G>A (p.Thr325=) rs1187845475
NM_022464.5(SIL1):c.9C>G (p.Pro3=)

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