List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Centogene AG - the Rare Disease Company

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	rs121918801	0.00001
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)	rs867553974
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)	rs1970945661
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)	rs901526282
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)	rs1699364791
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)	rs1702006673
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)	rs2065988707
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)	rs2059190701
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)	rs2052539418
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)	rs1595332731
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)	rs2067217104

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