ClinVar Miner

List of variants reported as pathogenic for autosomal anomaly by Department of Molecular Endocrinology, National Research Institute for Child Health and Development

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000014.9:g.100489287_100900640del411354
NC_000014.9:g.100720531_100829298del108768
NC_000014.9:g.100806482_101281031del474550
NC_000014.9:g.100824888_100829190delins100833642_100833702
NR_039729.1(MIR2392):n.-10132_-1575del

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