List of variants in gene SEMA6B studied for adolescent-onset epilepsy syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_032108.4(SEMA6B):c.307-31T>G	rs10422881	0.79751
NM_032108.4(SEMA6B):c.1601+24C>T	rs4807602	0.54013
NM_032108.4(SEMA6B):c.39G>C (p.Leu13=)	rs2304213	0.42756
NM_032108.4(SEMA6B):c.1454+30G>T	rs10853972	0.40419
NM_032108.4(SEMA6B):c.772-22G>A	rs45579944	0.09881
NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu)	rs918065842	0.00001
NM_032108.4(SEMA6B):c.743T>C (p.Ile248Thr)	rs1192861122	0.00001
NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=)	rs10422855
NM_032108.4(SEMA6B):c.1271+4G>T
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)	rs2145347825
NM_032108.4(SEMA6B):c.1739-2A>G
NM_032108.4(SEMA6B):c.1873del (p.Arg625fs)	rs2145342843
NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)	rs1977106116
NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs)	rs1977105425
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	rs1443687532
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)	rs2145342438
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
NM_032108.4(SEMA6B):c.2372C>G (p.Pro791Arg)

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