List of variants in gene combination LOC126862278, RBFOX1 reported as likely benign for idiopathic generalized epilepsy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_018723.4(RBFOX1):c.291G>A (p.Pro97=)	rs770163669	0.00002
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=)	rs148594771	0.00002
NM_018723.4(RBFOX1):c.393G>A (p.Pro131=)	rs772109063	0.00002
NM_018723.4(RBFOX1):c.414+20C>A	rs762873223	0.00002
NM_018723.4(RBFOX1):c.271-4T>G	rs749852826	0.00001
NM_018723.4(RBFOX1):c.294G>C (p.Thr98=)	rs372977736	0.00001
NM_018723.4(RBFOX1):c.303G>A (p.Gln101=)	rs750342737	0.00001
NM_018723.4(RBFOX1):c.360T>C (p.His120=)	rs767190235	0.00001
NM_018723.4(RBFOX1):c.271-100_271-11del
NM_018723.4(RBFOX1):c.271-13C>T
NM_018723.4(RBFOX1):c.285A>G (p.Ala95=)	rs754737409
NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)
NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)
NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)
NM_018723.4(RBFOX1):c.339G>A (p.Lys113=)	rs760846272
NM_018723.4(RBFOX1):c.357G>C (p.Leu119=)	rs751076623
NM_018723.4(RBFOX1):c.414+16C>A
NM_018723.4(RBFOX1):c.414+20C>G

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