ClinVar Miner

List of variants studied for neurocristopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (174):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.112093693_112095870del
NM_001042492.3(NF1):c.4110+945A>G rs2067468999
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627

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