List of variants reported as pathogenic for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001042681.2(RERE):c.3466G>A (p.Gly1156Arg)	rs766951273	0.00001
NM_001042681.2(RERE):c.2249_2270dup (p.Thr758fs)	rs878853252
NM_001042681.2(RERE):c.3785C>G (p.Pro1262Arg)	rs878853270
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)	rs869312871
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg)	rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	rs1064793252

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