List of variants reported as uncertain significance for complex neurodevelopmental disorder by GenomeConnect - Simons Searchlight

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)	rs184769423	0.00032
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)	rs139899756	0.00011
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His)	rs201982602	0.00003
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala)	rs777482147	0.00002
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys)	rs1226494061	0.00001
NM_000834.5(GRIN2B):c.1675T>A (p.Trp559Arg)	rs1949368959
NM_000834.5(GRIN2B):c.4244del (p.Ala1414_Ser1415insTer)	rs1948569124
NM_001040142.2(SCN2A):c.106A>G (p.Arg36Gly)	rs796053167
NM_001040142.2(SCN2A):c.2134A>T (p.Thr712Ser)	rs1698389721
NM_001040142.2(SCN2A):c.2852T>G (p.Met951Arg)	rs1218362168
NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val)	rs1700079624
NM_001040142.2(SCN2A):c.3734C>T (p.Ala1245Val)	rs768796023
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser)	rs1702009188
NM_001040142.2(SCN2A):c.4996C>T (p.Leu1666Phe)	rs1553463466
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)	rs1553463718
NM_001040142.2(SCN2A):c.716G>T (p.Gly239Val)	rs1697360374
NM_001371246.1(SCN2A):c.647T>A (p.Leu216His)	rs1697299021
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)	rs998489108

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