ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109

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