ClinVar Miner

List of variants reported as pathogenic 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: 13
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HGVS dbSNP
NM_000271.4(NPC1):c.2213C>A rs777286835
NM_000271.5(NPC1):c.1628del (p.Pro543fs) rs1555635957
NM_000271.5(NPC1):c.2196dup (p.Pro733fs) rs398123284
NM_000271.5(NPC1):c.2872C>T (p.Arg958Ter) rs759826138
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3229C>T (p.Arg1077Ter) rs750095738
NM_000271.5(NPC1):c.350_351AG[1] (p.Gln119fs) rs759075595
NM_000271.5(NPC1):c.3562del (p.Glu1188fs) rs758231839
NM_000271.5(NPC1):c.852del (p.Phe284fs) rs762124334
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260

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