List of variants studied for Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001042681.2(RERE):c.2720T>C (p.Leu907Pro)	rs769674978	0.00001
NM_001042681.2(RERE):c.137G>T (p.Gly46Val)
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs)	rs1641706044
NM_001042681.2(RERE):c.2519C>T (p.Ser840Phe)	rs1031152969
NM_001042681.2(RERE):c.2626C>T (p.Pro876Ser)
NM_001042681.2(RERE):c.3095C>A (p.Pro1032His)	rs1479474517
NM_001042681.2(RERE):c.3158C>T (p.Pro1053Leu)	rs1641510834
NM_001042681.2(RERE):c.3221C>A (p.Ala1074Glu)	rs764784467
NM_001042681.2(RERE):c.3479C>T (p.Ala1160Val)	rs1641487262
NM_001042681.2(RERE):c.3803C>A (p.Thr1268Asn)	rs1641415262
NM_001042681.2(RERE):c.3999G>C (p.Glu1333Asp)	rs868002362
NM_001042681.2(RERE):c.4042G>T (p.Ala1348Ser)	rs1641392810
NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del)
NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu)	rs1641253525
NM_001042681.2(RERE):c.890C>T (p.Pro297Leu)	rs1645061321

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