List of variants in gene CYFIP2 reported as pathogenic for complex neurodevelopmental disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro)	rs1760440801
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met)	rs369858004
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys)	rs1760957806
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His)	rs1581069143
NM_001037333.3(CYFIP2):c.2099A>G (p.Gln700Arg)	rs1761161860
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)	rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)	rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)	rs1554108163
NM_001037333.3(CYFIP2):c.322T>C (p.Tyr108His)

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