ClinVar Miner

List of intergenic variants studied for Cholestanol storage disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000784.3:c.10_11 ins10bp
NM_000784.3:c.1146_1151delins
NM_000784.3:c.1180-1181delCT
NM_000784.3:c.1263+81_1596+?del
NM_000784.3:c.1323C>T
NM_000784.3:c.1330-1333delTTCC
NM_000784.3:c.599C>T

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