List of variants studied for Autosomal dominant nocturnal frontal lobe epilepsy 1 by Revvity Omics, Revvity

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys)	rs56175056	0.00045
NM_000744.7(CHRNA4):c.1861C>A (p.Pro621Thr)	rs199852690	0.00009
NM_000744.7(CHRNA4):c.1759-4G>A	rs374354698	0.00005
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln)	rs200810080	0.00003
NM_000744.7(CHRNA4):c.1109G>A (p.Arg370Gln)	rs121912267	0.00002
NM_000744.7(CHRNA4):c.1060C>T (p.Arg354Cys)	rs758534439	0.00001
NM_000744.7(CHRNA4):c.1354C>T (p.Pro452Ser)	rs199914663	0.00001
NM_000744.7(CHRNA4):c.1447C>T (p.Arg483Trp)	rs998924085	0.00001
NM_000744.7(CHRNA4):c.1085C>T (p.Ser362Phe)
NM_000744.7(CHRNA4):c.1271C>T (p.Ser424Leu)
NM_000744.7(CHRNA4):c.1369G>A (p.Ala457Thr)	rs753598324
NM_000744.7(CHRNA4):c.1504G>T (p.Ala502Ser)
NM_000744.7(CHRNA4):c.1577C>T (p.Pro526Leu)
NM_000744.7(CHRNA4):c.1598G>C (p.Cys533Ser)
NM_000744.7(CHRNA4):c.1616C>T (p.Ser539Leu)
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup)	rs1064794327
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe)	rs121909580

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