ClinVar Miner

List of variants studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.2422C>A (p.Pro808Thr) rs957128425 0.00004
NM_001042681.2(RERE):c.2507C>T (p.Pro836Leu) rs1239182312 0.00003
NM_001042681.2(RERE):c.241A>G (p.Lys81Glu) rs1638277978
NM_001042681.2(RERE):c.3587G>A (p.Arg1196Gln) rs1408948503
NM_001042681.2(RERE):c.635G>A (p.Gly212Glu) rs1646009052

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