ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease type C by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2604+14_2604+16del rs747422358
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3477+19T>C rs375942184
NM_000271.5(NPC1):c.463+19A>G rs117512587
NM_006432.4(NPC2):c.363+7G>A rs200463204

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