ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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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.*2419G>A rs10864027 0.41090
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.*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 0.08778
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

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