ClinVar Miner

List of variants in gene FLVCR1 studied for Posterior column ataxia-retinitis pigmentosa syndrome

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Gene type:
ClinVar version:
Total variants: 159
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HGVS dbSNP
NM_014053.3(FLVCR1):c.*4085_*4086delTT rs148146820
NM_014053.3(FLVCR1):c.-181A>G rs886045921
NM_014053.4(FLVCR1):c.*1021A>G
NM_014053.4(FLVCR1):c.*1106C>T rs12567728
NM_014053.4(FLVCR1):c.*114C>T
NM_014053.4(FLVCR1):c.*1151A>G rs6682947
NM_014053.4(FLVCR1):c.*1174C>T rs886045936
NM_014053.4(FLVCR1):c.*123T>C
NM_014053.4(FLVCR1):c.*1246T>C
NM_014053.4(FLVCR1):c.*1300A>G rs186133334
NM_014053.4(FLVCR1):c.*1317A>G rs145011972
NM_014053.4(FLVCR1):c.*1422T>A rs138620842
NM_014053.4(FLVCR1):c.*1454G>A
NM_014053.4(FLVCR1):c.*1543C>G
NM_014053.4(FLVCR1):c.*1544A>G rs6685793
NM_014053.4(FLVCR1):c.*1548T>C
NM_014053.4(FLVCR1):c.*1549A>G
NM_014053.4(FLVCR1):c.*1566A>T rs113327053
NM_014053.4(FLVCR1):c.*1600G>A rs55793082
NM_014053.4(FLVCR1):c.*1609A>G rs12405742
NM_014053.4(FLVCR1):c.*1627T>G rs529311781
NM_014053.4(FLVCR1):c.*166G>A rs41301017
NM_014053.4(FLVCR1):c.*1738G>A
NM_014053.4(FLVCR1):c.*1739C>T rs191112278
NM_014053.4(FLVCR1):c.*1751C>T rs187971996
NM_014053.4(FLVCR1):c.*1793C>T rs12567975
NM_014053.4(FLVCR1):c.*1826C>T rs12567976
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[10] rs141272551
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*1880_*1883TAAA[9] rs141272551
NM_014053.4(FLVCR1):c.*1920T>A
NM_014053.4(FLVCR1):c.*1940G>A rs6697126
NM_014053.4(FLVCR1):c.*1952C>A rs886045938
NM_014053.4(FLVCR1):c.*1954A>G
NM_014053.4(FLVCR1):c.*2059T>C rs6688825
NM_014053.4(FLVCR1):c.*2061_*2062CA[11] rs139242973
NM_014053.4(FLVCR1):c.*2061_*2062CA[12] rs139242973
NM_014053.4(FLVCR1):c.*2061_*2062CA[13] rs139242973
NM_014053.4(FLVCR1):c.*2061_*2062CA[20] rs139242973
NM_014053.4(FLVCR1):c.*2164G>A rs143656000
NM_014053.4(FLVCR1):c.*2188C>T rs552491316
NM_014053.4(FLVCR1):c.*2189G>A rs183774878
NM_014053.4(FLVCR1):c.*2218C>T rs886045939
NM_014053.4(FLVCR1):c.*2371A>G rs886045940
NM_014053.4(FLVCR1):c.*2409C>T
NM_014053.4(FLVCR1):c.*2419G>A rs10864027
NM_014053.4(FLVCR1):c.*2443C>T rs117380165
NM_014053.4(FLVCR1):c.*2480T>G rs886045941
NM_014053.4(FLVCR1):c.*2495C>T
NM_014053.4(FLVCR1):c.*2540T>C
NM_014053.4(FLVCR1):c.*2578G>A rs1284856
NM_014053.4(FLVCR1):c.*2591G>C
NM_014053.4(FLVCR1):c.*2672_*2673del rs557446640
NM_014053.4(FLVCR1):c.*2704T>G
NM_014053.4(FLVCR1):c.*2709T>C rs1284855
NM_014053.4(FLVCR1):c.*279T>C rs17019875
NM_014053.4(FLVCR1):c.*2813G>A rs1284854
NM_014053.4(FLVCR1):c.*284G>A rs41301021
NM_014053.4(FLVCR1):c.*2860C>A
NM_014053.4(FLVCR1):c.*2887C>T rs186854246
NM_014053.4(FLVCR1):c.*2908G>A rs1284853
NM_014053.4(FLVCR1):c.*2949G>A rs756936130
NM_014053.4(FLVCR1):c.*2954T>C
NM_014053.4(FLVCR1):c.*2968G>A rs10902
NM_014053.4(FLVCR1):c.*3032G>T
NM_014053.4(FLVCR1):c.*3127_*3128insGATA rs1553266731
NM_014053.4(FLVCR1):c.*3129A>T rs202125545
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3226T>C rs114795134
NM_014053.4(FLVCR1):c.*3228T>C rs886045943
NM_014053.4(FLVCR1):c.*3241C>T rs113198161
NM_014053.4(FLVCR1):c.*3260T>C rs183392554
NM_014053.4(FLVCR1):c.*3264T>C rs374214375
NM_014053.4(FLVCR1):c.*326T>C
NM_014053.4(FLVCR1):c.*32T>C rs374779364
NM_014053.4(FLVCR1):c.*3313G>T rs15903
NM_014053.4(FLVCR1):c.*3337G>C
NM_014053.4(FLVCR1):c.*339T>G rs12074192
NM_014053.4(FLVCR1):c.*344T>C rs886045930
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_014053.4(FLVCR1):c.*353A>G rs6679775
NM_014053.4(FLVCR1):c.*3598G>C rs886045944
NM_014053.4(FLVCR1):c.*3739G>A rs865806240
NM_014053.4(FLVCR1):c.*3756C>T
NM_014053.4(FLVCR1):c.*377T>C rs41258034
NM_014053.4(FLVCR1):c.*384T>C rs886045931
NM_014053.4(FLVCR1):c.*422G>A
NM_014053.4(FLVCR1):c.*500G>A
NM_014053.4(FLVCR1):c.*569C>G rs185115842
NM_014053.4(FLVCR1):c.*626T>A rs11582817
NM_014053.4(FLVCR1):c.*657A>G rs758210046
NM_014053.4(FLVCR1):c.*665C>T
NM_014053.4(FLVCR1):c.*673G>A rs41301027
NM_014053.4(FLVCR1):c.*740T>G
NM_014053.4(FLVCR1):c.*785C>T
NM_014053.4(FLVCR1):c.*788C>T rs6670064
NM_014053.4(FLVCR1):c.*838_*839CT[2] rs549002753
NM_014053.4(FLVCR1):c.*839T>G rs886045932
NM_014053.4(FLVCR1):c.*844T>C rs12565125
NM_014053.4(FLVCR1):c.*847T>C
NM_014053.4(FLVCR1):c.*855T>C rs564661630
NM_014053.4(FLVCR1):c.*855del rs752835859
NM_014053.4(FLVCR1):c.*855dup rs752835859
NM_014053.4(FLVCR1):c.*891A>G rs41301029
NM_014053.4(FLVCR1):c.*8G>A rs886045929
NM_014053.4(FLVCR1):c.*923T>C rs886045935
NM_014053.4(FLVCR1):c.*931C>T rs12567713
NM_014053.4(FLVCR1):c.-104G>A
NM_014053.4(FLVCR1):c.-154G>T
NM_014053.4(FLVCR1):c.-156del rs373452417
NM_014053.4(FLVCR1):c.-166G>C
NM_014053.4(FLVCR1):c.-168C>G
NM_014053.4(FLVCR1):c.-36G>A rs886045922
NM_014053.4(FLVCR1):c.-86C>T rs2201603
NM_014053.4(FLVCR1):c.-87G>A rs41296692
NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile)
NM_014053.4(FLVCR1):c.1059G>A (p.Thr353=) rs550517136
NM_014053.4(FLVCR1):c.1092+5G>A rs556788423
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772
NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg)
NM_014053.4(FLVCR1):c.1413+82TTG[6] rs41300975
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu)
NM_014053.4(FLVCR1):c.1521A>G (p.Leu507=) rs74607124
NM_014053.4(FLVCR1):c.1525+13G>A
NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter) rs538343832
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870
NM_014053.4(FLVCR1):c.1594-13_1594-10dup rs41301015
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090
NM_014053.4(FLVCR1):c.1657T>G (p.Ser553Ala) rs149887215
NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)
NM_014053.4(FLVCR1):c.241C>T (p.Leu81=)
NM_014053.4(FLVCR1):c.270C>A (p.Thr90=)
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820
NM_014053.4(FLVCR1):c.385A>G (p.Ser129Gly) rs781057835
NM_014053.4(FLVCR1):c.42C>T (p.Pro14=) rs886045923
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.574T>C (p.Cys192Arg) rs267606821
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe) rs41296694
NM_014053.4(FLVCR1):c.611T>G (p.Met204Arg) rs886045926
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_014053.4(FLVCR1):c.738+9T>C rs41296696
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala)
NM_014053.4(FLVCR1):c.782C>T (p.Pro261Leu) rs886045927
NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser)
NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu)
NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn)
NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val)
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550
NM_014053.4(FLVCR1):c.952G>A (p.Glu318Lys) rs41297444
NM_014053.4(FLVCR1):c.962A>G (p.Tyr321Cys) rs142749772
NM_014053.4(FLVCR1):c.981C>T (p.Asn327=) rs886045928

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