ClinVar Miner

List of variants in gene FLVCR2 studied for FLVCR1-related retinopathy with or without ataxia

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
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_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
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_017791.3(FLVCR2):c.*187T>C rs75002047 0.01000
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_017791.3(FLVCR2):c.*756A>G rs78654241 0.00279
NM_017791.3(FLVCR2):c.*1517T>C rs114442666 0.00113
NM_017791.3(FLVCR2):c.*18C>T rs369026585 0.00059
NM_017791.3(FLVCR2):c.*1070T>C rs533763314 0.00039
NM_017791.3(FLVCR2):c.*1071G>T rs553617789 0.00039
NM_017791.3(FLVCR2):c.421G>A (p.Val141Met) rs193042691 0.00028
NM_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
NM_017791.3(FLVCR2):c.*155C>T rs562468033 0.00019
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp) rs183200579 0.00019
NM_017791.3(FLVCR2):c.286A>G (p.Met96Val) rs199805789 0.00018
NM_017791.3(FLVCR2):c.*1633A>C rs552943781 0.00016
NM_017791.3(FLVCR2):c.953-15C>T rs188707531 0.00016
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp) rs146668840 0.00011
NM_017791.3(FLVCR2):c.*675A>G rs1025714059 0.00010
NM_017791.3(FLVCR2):c.*510A>G rs182904017 0.00009
NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val) rs559975316 0.00005
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_017791.3(FLVCR2):c.*1319C>T rs541678412 0.00003
NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=) rs762529599 0.00002
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.1474C>T (p.Arg492Trp) rs139495418 0.00001
NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg) rs767398242 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.947C>G (p.Thr316Ser) rs779117746 0.00001
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.360C>G (p.Ala120=) rs906645811
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017791.3(FLVCR2):c.669+8G>C rs769337002
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790

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