List of variants reported as uncertain significance for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by Neuberg Centre For Genomic Medicine, NCGM

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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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.1198G>A (p.Glu400Lys)
NM_001042681.2(RERE):c.1762C>T (p.Arg588Trp)	rs1641641189
NM_001042681.2(RERE):c.2819C>T (p.Pro940Leu)
NM_001042681.2(RERE):c.3974C>T (p.Pro1325Leu)

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