ClinVar Miner

List of variants in gene RBFOX3 studied for EIG

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_001082575.2(RBFOX3):c.103G>A (p.Gly35Ser) rs375309858
NM_001082575.2(RBFOX3):c.166G>A (p.Glu56Lys)
NM_001082575.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745
NM_001082575.2(RBFOX3):c.21C>A (p.Pro7=)
NM_001082575.2(RBFOX3):c.232G>A (p.Glu78Lys)
NM_001082575.2(RBFOX3):c.257C>T (p.Pro86Leu) rs377660420
NM_001082575.2(RBFOX3):c.271G>A (p.Asp91Asn) rs375940495
NM_001082575.2(RBFOX3):c.273C>A (p.Asp91Glu)
NM_001082575.2(RBFOX3):c.30C>T (p.Tyr10=) rs1555694660
NM_001082575.2(RBFOX3):c.321C>T (p.Pro107=) rs150282906
NM_001082575.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032
NM_001082575.2(RBFOX3):c.414+9C>T rs911641608
NM_001082575.2(RBFOX3):c.414G>C (p.Lys138Asn) rs1568134061
NM_001082575.2(RBFOX3):c.415-4A>G rs878854169
NM_001082575.2(RBFOX3):c.415-9T>C rs878854170
NM_001082575.2(RBFOX3):c.436G>C (p.Glu146Gln)
NM_001082575.2(RBFOX3):c.522G>A (p.Thr174=)
NM_001082575.2(RBFOX3):c.548C>T (p.Thr183Met) rs542684395
NM_001082575.2(RBFOX3):c.552G>T (p.Gly184=) rs375171072
NM_001082575.2(RBFOX3):c.556C>A (p.Pro186Thr) rs372072435
NM_001082575.2(RBFOX3):c.568+6G>C
NM_001082575.2(RBFOX3):c.594C>T (p.Gly198=) rs371067982
NM_001082575.2(RBFOX3):c.623-4G>T rs547643968
NM_001082575.2(RBFOX3):c.62A>C (p.Glu21Ala) rs1167103679
NM_001082575.2(RBFOX3):c.63G>A (p.Glu21=) rs565537117
NM_001082575.2(RBFOX3):c.641C>A (p.Pro214His) rs370372079
NM_001082575.2(RBFOX3):c.673G>A (p.Ala225Thr)
NM_001082575.2(RBFOX3):c.679C>A (p.Leu227Ile)
NM_001082575.2(RBFOX3):c.68C>T (p.Ala23Val) rs878854171
NM_001082575.2(RBFOX3):c.700G>A (p.Val234Met)
NM_001082575.2(RBFOX3):c.714T>G (p.Phe238Leu)
NM_001082575.2(RBFOX3):c.750C>T (p.Tyr250=) rs1015038952
NM_001082575.2(RBFOX3):c.819C>T (p.Tyr273=) rs539897924
NM_001082575.2(RBFOX3):c.837G>A (p.Ala279=) rs780865169
NM_001082575.2(RBFOX3):c.857+9G>T rs79080598
NM_001082575.2(RBFOX3):c.888G>A (p.Pro296=) rs373093807
NM_001082575.2(RBFOX3):c.910G>A (p.Ala304Thr)
NM_001082575.2(RBFOX3):c.914C>T (p.Ala305Val) rs1294363374
NM_001082575.2(RBFOX3):c.915G>A (p.Ala305=) rs1228682560
NM_001082575.2(RBFOX3):c.936+6G>A

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