ClinVar Miner

List of variants reported as likely benign for autosomal recessive degenerative and progressive cerebellar ataxia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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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_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_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00019
NM_014053.4(FLVCR1):c.*2887C>T rs186854246 0.00011
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 0.00011
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_017791.3(FLVCR2):c.*1319C>T rs541678412 0.00003
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NC_000001.11:g.212899378_212899379del rs148146820
NM_014053.4(FLVCR1):c.*2061CA[13] rs139242973
NM_022464.5(SIL1):c.-94G>C

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