ClinVar Miner

List of variants in gene NPC2 reported as likely pathogenic for Niemann-Pick disease type C

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.191-1_193del rs1555345873
NM_006432.4(NPC2):c.1A>G (p.Met1Val) rs1555346369
NM_006432.4(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.4(NPC2):c.364-2A>G rs777654308
NM_006432.4(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.4(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) rs104894457

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