List of variants studied for complex neurodevelopmental disorder by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)	rs16024	0.00390
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)	rs200926225	0.00160
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser)	rs776176742	0.00001
NM_001330260.2(SCN8A):c.4634C>T (p.Thr1545Ile)	rs759753811	0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)	rs752579642	0.00001
NM_000834.5(GRIN2B):c.2422G>A (p.Val808Ile)	rs1565455923
NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu)	rs1559353139
NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe)	rs1559353186
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)	rs1557135793
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val)	rs1555789420
NM_001127222.2(CACNA1A):c.3692+1G>T	rs1315533129
NM_001271.4(CHD2):c.1883T>G (p.Leu628Ter)	rs1555440885
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)	rs758334927

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