ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Laboratorio de Genetica Humana; Universidad de los Andes

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr) rs797046134
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu) rs797046135
NM_001481.3(GAS8):c.90+1487_90+1488insGCTGCCCCGCAG rs1555648296
NM_006186.4(NR4A2):c.357G>T (p.Ser119=) rs797046133

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