List of variants reported as pathogenic for complex neurodevelopmental disorder by Blueprint Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys)	rs121918788
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	rs139300715
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)

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