ClinVar Miner

List of variants reported as 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: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.38756
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.09080
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.