ClinVar Miner

List of variants reported as likely pathogenic for Niemann-Pick disease type C by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NC_000018.10:g.23535537dup
NC_000018.10:g.23556257G>A
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805

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