ClinVar Miner

List of variants studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val) rs1215653376 0.00001
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001042681.2(RERE):c.248dup (p.Ser84fs) rs1557461427
NM_001042681.2(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro) rs1557582271
NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr) rs1557582259
NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) rs1553154130
NM_001042681.2(RERE):c.4304A>T (p.His1435Leu) rs1553154130
NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) rs1064793252
NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg) rs1321809020
Single allele

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