ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease type C by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000271.5(NPC1):c.1275G>A (p.Ser425=) rs190032589
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3477+14C>T rs56043719
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251

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