ClinVar Miner

List of variants reported as uncertain significance 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: 223
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HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.*1566A>T rs113327053 0.05268
NM_014053.4(FLVCR1):c.-156del rs373452417 0.01681
NM_014053.4(FLVCR1):c.*2059T>C rs6688825 0.01209
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_014053.4(FLVCR1):c.*1739C>T rs191112278 0.00444
NM_017791.3(FLVCR2):c.*756A>G rs78654241 0.00279
NM_014053.4(FLVCR1):c.*2164G>A rs143656000 0.00270
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_014053.4(FLVCR1):c.*3226T>C rs114795134 0.00221
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444 0.00210
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_014053.4(FLVCR1):c.738+9T>C rs41296696 0.00133
NM_014053.4(FLVCR1):c.*1627T>G rs529311781 0.00130
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_014053.4(FLVCR1):c.*1454G>A rs565177366 0.00070
NM_014053.4(FLVCR1):c.*32T>C rs374779364 0.00068
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215 0.00064
NM_017791.3(FLVCR2):c.*18C>T rs369026585 0.00059
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_014053.4(FLVCR1):c.*1954A>G rs567288372 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_017791.3(FLVCR2):c.*1070T>C rs533763314 0.00039
NM_017791.3(FLVCR2):c.*1071G>T rs553617789 0.00039
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) rs193042691 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_014053.4(FLVCR1):c.*2189G>A rs183774878 0.00020
NM_017791.3(FLVCR2):c.*155C>T rs562468033 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) rs199805789 0.00018
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_017791.3(FLVCR2):c.*1633A>C rs552943781 0.00016
NM_017791.3(FLVCR2):c.953-15C>T rs188707531 0.00016
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_014053.4(FLVCR1):c.*2409C>T rs1015419064 0.00014
NM_014053.4(FLVCR1):c.*3260T>C rs183392554 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_014053.4(FLVCR1):c.*569C>G rs185115842 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_014053.4(FLVCR1):c.*2218C>T rs886045939 0.00010
NM_017791.3(FLVCR2):c.*675A>G rs1025714059 0.00010
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_014053.4(FLVCR1):c.*2480T>G rs886045941 0.00009
NM_017791.3(FLVCR2):c.*510A>G rs182904017 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_014053.4(FLVCR1):c.*114C>T rs184177347 0.00006
NM_014053.4(FLVCR1):c.*1174C>T rs886045936 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_014053.4(FLVCR1):c.*1422T>A rs138620842 0.00005
NM_014053.4(FLVCR1):c.*1549A>G rs1332609883 0.00005
NM_014053.4(FLVCR1):c.*657A>G rs758210046 0.00005
NM_014053.4(FLVCR1):c.1525+13G>A rs377087497 0.00005
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) rs559975316 0.00005
NM_014053.4(FLVCR1):c.*3739G>A rs865806240 0.00004
NM_014053.4(FLVCR1):c.*8G>A rs886045929 0.00004
NM_014053.4(FLVCR1):c.-104G>A rs1195891357 0.00004
NM_014053.4(FLVCR1):c.-36G>A rs886045922 0.00004
NM_017791.3(FLVCR2):c.*1588A>C rs764448107 0.00004
NM_017791.3(FLVCR2):c.*1672G>A rs569521792 0.00004
NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu) rs372243784 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_014053.4(FLVCR1):c.*1543C>G rs1665346561 0.00003
NM_014053.4(FLVCR1):c.*1548T>C rs1572032740 0.00003
NM_014053.4(FLVCR1):c.*839T>G rs886045932 0.00003
NM_014053.4(FLVCR1):c.*923T>C rs886045935 0.00003
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) rs886045923 0.00003
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) rs142749772 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_014053.3(FLVCR1):c.-181A>G rs886045921 0.00002
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136 0.00002
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu) rs766483912 0.00002
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn) rs755239032 0.00002
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) rs762529599 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_014053.4(FLVCR1):c.*123T>C rs1355815695 0.00001
NM_014053.4(FLVCR1):c.*1738G>A rs541110364 0.00001
NM_014053.4(FLVCR1):c.*2188C>T rs552491316 0.00001
NM_014053.4(FLVCR1):c.*2371A>G rs886045940 0.00001
NM_014053.4(FLVCR1):c.*2954T>C rs930665650 0.00001
NM_014053.4(FLVCR1):c.*3228T>C rs886045943 0.00001
NM_014053.4(FLVCR1):c.*344T>C rs886045930 0.00001
NM_014053.4(FLVCR1):c.*665C>T rs1226910181 0.00001
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile) rs754655924 0.00001
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124 0.00001
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=) rs1251133617 0.00001
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) rs781057835 0.00001
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser) rs746296931 0.00001
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) rs886045928 0.00001
NM_017791.3(FLVCR2):c.*893T>C rs1890444124 0.00001
NM_017791.3(FLVCR2):c.*952T>G rs747845375 0.00001
NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs) rs779784201 0.00001
NM_017791.3(FLVCR2):c.1474C>T (p.Arg492Trp) rs139495418 0.00001
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) rs767398242 0.00001
NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle) rs746459536 0.00001
NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr) rs886050786 0.00001
NM_017791.3(FLVCR2):c.69G>A (p.Ala23=) rs1888525051 0.00001
NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg) rs768707435 0.00001
NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg) rs267606823 0.00001
NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser) rs779117746 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_014053.4(FLVCR1):c.*1021A>G rs551356467
NM_014053.4(FLVCR1):c.*1246T>C rs1665339009
NM_014053.4(FLVCR1):c.*1880TAAA[10] rs141272551
NM_014053.4(FLVCR1):c.*1880TAAA[9] rs141272551
NM_014053.4(FLVCR1):c.*1952C>A rs886045938
NM_014053.4(FLVCR1):c.*2061CA[11] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*2061CA[20] rs139242973
NM_014053.4(FLVCR1):c.*2495C>T rs1665380437
NM_014053.4(FLVCR1):c.*2591G>C rs904043805
NM_014053.4(FLVCR1):c.*2672_*2673del rs557446640
NM_014053.4(FLVCR1):c.*2704T>G rs1665384723
NM_014053.4(FLVCR1):c.*2949G>A rs756936130
NM_014053.4(FLVCR1):c.*3127_*3128insGATA rs1553266731
NM_014053.4(FLVCR1):c.*3129A>T rs202125545
NM_014053.4(FLVCR1):c.*326T>C rs1665314385
NM_014053.4(FLVCR1):c.*3337G>C rs1665402320
NM_014053.4(FLVCR1):c.*3598G>C rs886045944
NM_014053.4(FLVCR1):c.*3756C>T rs1175866801
NM_014053.4(FLVCR1):c.*384T>C rs886045931
NM_014053.4(FLVCR1):c.*422G>A rs1665316878
NM_014053.4(FLVCR1):c.*740T>G rs1665325309
NM_014053.4(FLVCR1):c.*785C>T rs1665326608
NM_014053.4(FLVCR1):c.*838CT[2] rs549002753
NM_014053.4(FLVCR1):c.*847T>C rs1665329642
NM_014053.4(FLVCR1):c.*855del rs752835859
NM_014053.4(FLVCR1):c.*855dup rs752835859
NM_014053.4(FLVCR1):c.-154G>T rs554048351
NM_014053.4(FLVCR1):c.-166G>C rs1664078764
NM_014053.4(FLVCR1):c.-168C>G rs1572000804
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg) rs1665115556
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=) rs534403116
NM_014053.4(FLVCR1):c.51G>C (p.Pro17=) rs886045924
NM_014053.4(FLVCR1):c.534G>C (p.Leu178=) rs886045925
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) rs886045926
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala) rs1664320715
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) rs886045927
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val) rs1294845921
NM_017791.3(FLVCR2):c.*1003G>A rs549464206
NM_017791.3(FLVCR2):c.*1322G>A rs1566800405
NM_017791.3(FLVCR2):c.*1613C>T rs1890460668
NM_017791.3(FLVCR2):c.*379T>C rs886050789
NM_017791.3(FLVCR2):c.*513A>G rs1890435742
NM_017791.3(FLVCR2):c.*517C>T rs188459017
NM_017791.3(FLVCR2):c.*644G>A rs1890438951
NM_017791.3(FLVCR2):c.*856T>C rs1890443552
NM_017791.3(FLVCR2):c.*98T>C rs886050788
NM_017791.3(FLVCR2):c.1326C>T (p.Leu442=) rs886050787
NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu) rs1566799791
NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys) rs1566799795
NM_017791.3(FLVCR2):c.360C>G (p.Ala120=) rs906645811
NM_017791.3(FLVCR2):c.669+8G>C rs769337002
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_022464.5(SIL1):c.*105C>T
NM_022464.5(SIL1):c.*265C>G
NM_022464.5(SIL1):c.*30C>T
NM_022464.5(SIL1):c.*349T>C
NM_022464.5(SIL1):c.*68del
NM_022464.5(SIL1):c.*80G>C
NM_022464.5(SIL1):c.-106G>C
NM_022464.5(SIL1):c.-1T>C
NM_022464.5(SIL1):c.-29C>G
NM_022464.5(SIL1):c.-92T>A
NM_022464.5(SIL1):c.-98C>T
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.1060C>T (p.Gln354Ter)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1122G>C (p.Trp374Cys)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1279G>T (p.Ala427Ser)
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.164A>G (p.Glu55Gly)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.487C>T (p.Pro163Ser)
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
NM_022464.5(SIL1):c.645+15C>T
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)

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