ClinVar Miner

List of variants in gene RAX2 studied for Cone-rod dystrophy 11

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001319074.4(RAX2):c.*866C>T rs917545 0.78969
NM_001319074.4(RAX2):c.*1366C>G rs6510769 0.25783
NM_001319074.4(RAX2):c.*785G>A rs917546 0.20551
NM_001319074.4(RAX2):c.*720G>A rs917547 0.16734
NM_001319074.4(RAX2):c.*1149C>T rs1860322 0.15969
NM_001319074.4(RAX2):c.217-8C>T rs79588413 0.15214
NM_001319074.4(RAX2):c.*680G>A rs28673245 0.06699
NM_001319074.4(RAX2):c.*902G>T rs10405125 0.02418
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu) rs76076446 0.01485
NM_001319074.4(RAX2):c.*647T>C rs112369501 0.01352
NM_001319074.4(RAX2):c.*381A>G rs73531473 0.01319
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_001319074.4(RAX2):c.*1324A>G rs138882802 0.00293
NM_001319074.4(RAX2):c.-270C>T rs776666200 0.00265
NM_001319074.4(RAX2):c.*689C>T rs115071988 0.00201
NM_001319074.4(RAX2):c.*45C>T rs139146360 0.00120
NM_001319074.4(RAX2):c.432G>A (p.Ala144=) rs149918940 0.00108
NM_001319074.4(RAX2):c.282C>T (p.Ala94=) rs201021639 0.00102
NM_001319074.4(RAX2):c.*191C>T rs150808899 0.00099
NM_001319074.4(RAX2):c.*368C>T rs756898228 0.00076
NM_001319074.4(RAX2):c.156G>A (p.Pro52=) rs141804618 0.00059
NM_001319074.4(RAX2):c.-281G>A rs182965071 0.00048
NM_001319074.4(RAX2):c.-316G>A rs576680324 0.00048
NM_001319074.4(RAX2):c.*776C>T rs887917665 0.00041
NM_001319074.4(RAX2):c.*1169G>A rs554924169 0.00031
NM_001319074.4(RAX2):c.*201C>T rs565417258 0.00014
NM_001319074.4(RAX2):c.*501C>T rs891425007 0.00012
NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu) rs754730849 0.00009
NM_001319074.4(RAX2):c.-286G>T rs563046576 0.00007
NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu) rs978473853 0.00007
NM_001319074.4(RAX2):c.83G>A (p.Arg28Gln) rs199546013 0.00006
NM_001319074.4(RAX2):c.*1054C>T rs368356816 0.00005
NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln) rs370757303 0.00005
NM_001319074.4(RAX2):c.*624G>A rs886054368 0.00004
NM_001319074.4(RAX2):c.*751G>A rs901586216 0.00004
NM_001319074.4(RAX2):c.*784C>T rs929531306 0.00004
NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly) rs1025462223 0.00004
NM_001319074.4(RAX2):c.92G>A (p.Arg31His) rs373009969 0.00004
NM_001319074.4(RAX2):c.*1523T>C rs775609621 0.00003
NM_001319074.4(RAX2):c.*248C>T rs1418917467 0.00003
NM_001319074.4(RAX2):c.-269+8C>T rs886054370 0.00003
NM_001319074.4(RAX2):c.385G>A (p.Val129Met) rs758285438 0.00003
NM_001319074.4(RAX2):c.*195G>A rs1449281671 0.00002
NM_001319074.4(RAX2):c.*918G>A rs748630795 0.00002
NM_001319074.4(RAX2):c.*1490A>G rs1432848167 0.00001
NM_001319074.4(RAX2):c.*552C>T rs760554835 0.00001
NM_001319074.4(RAX2):c.*667G>A rs1477435359 0.00001
NM_001319074.4(RAX2):c.*679C>T rs576669713 0.00001
NM_001319074.4(RAX2):c.*687A>G rs1208248243 0.00001
NM_001319074.4(RAX2):c.*972T>A rs886054366 0.00001
NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) rs775581464 0.00001
NM_001319074.4(RAX2):c.19G>A (p.Glu7Lys) rs556179949 0.00001
NM_001319074.4(RAX2):c.217-10C>T rs772762463 0.00001
NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu) rs774846243 0.00001
NM_001319074.4(RAX2):c.446A>G (p.His149Arg) rs1230148971 0.00001
NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg) rs766488722 0.00001
NM_001319074.4(RAX2):c.*1483C>T rs886054363
NM_001319074.4(RAX2):c.*194C>G rs11883056
NM_001319074.4(RAX2):c.*263C>T rs1568400313
NM_001319074.4(RAX2):c.*7C>T rs781395665
NM_001319074.4(RAX2):c.*88C>T rs886054369
NM_001319074.4(RAX2):c.*897C>T rs2037229349
NM_001319074.4(RAX2):c.*949C>T rs886054367
NM_001319074.4(RAX2):c.-275G>A rs1184528094
NM_001319074.4(RAX2):c.-319C>A rs886054371
NM_001319074.4(RAX2):c.217-11G>C rs762459292
NM_001319074.4(RAX2):c.217-8C>A rs79588413
NM_001319074.4(RAX2):c.409G>C (p.Gly137Arg) rs121908281
NM_001319074.4(RAX2):c.411CCCGGG[3] (p.138PG[3]) rs549932754
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs) rs886041039
NM_001319074.4(RAX2):c.76A>C (p.Lys26Gln) rs370364475

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