List of variants studied for developmental and epileptic encephalopathy, 7 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)	rs1057516116	0.00001
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)	rs773171451
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala)	rs2145497630
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)	rs796052621
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)	rs886041262
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)	rs74315392
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)	rs794727740
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)	rs1064797284
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)	rs1600751236

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