ClinVar Miner

List of variants studied for Niemann-Pick disease type C by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1947+8_1947+10dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+11dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000271.5(NPC1):c.2131-5_2131-4del rs11299077
NM_000271.5(NPC1):c.2604+30del rs746440359
NM_000271.5(NPC1):c.2795+19T>C rs200103695
NM_000271.5(NPC1):c.3477+19T>C rs375942184

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