ClinVar Miner

List of variants in gene NPC2 reported as uncertain significance for Niemann-Pick disease, type C2

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Total variants: 12
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HGVS dbSNP
NC_000014.9:g.(?_74480254)_(74486456_?)del
NM_006432.4(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) rs142075589
NM_006432.4(NPC2):c.271G>A (p.Asp91Asn) rs148607507
NM_006432.4(NPC2):c.292A>C (p.Asn98His) rs142858704
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.333T>G (p.Asn111Lys) rs757377148
NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del) rs781255433
NM_006432.4(NPC2):c.442-1G>A rs1555345562
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)

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