ClinVar Miner

List of variants in gene NPC2 studied for Niemann-Pick disease, type C2

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Total variants: 40
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HGVS dbSNP
NC_000014.9:g.(?_74480254)_(74486456_?)del
NC_000014.9:g.(?_74480264)_(74493284_?)del
NM_006432.4(NPC2):c.115G>A (p.Val39Met) rs80358261
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.4(NPC2):c.140G>T (p.Cys47Phe) rs1555345993
NM_006432.4(NPC2):c.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.191-1_193del rs1555345873
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.1A>G (p.Met1Val) rs1555346369
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.27del (p.Leu10fs) rs80358267
NM_006432.4(NPC2):c.292A>C (p.Asn98His) rs142858704
NM_006432.4(NPC2):c.295T>C (p.Cys99Arg) rs80358264
NM_006432.4(NPC2):c.2T>C (p.Met1Thr) rs1555346368
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.333T>G (p.Asn111Lys) rs757377148
NM_006432.4(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.4(NPC2):c.358C>T (p.Pro120Ser) rs104894458
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.364-2A>G rs777654308
NM_006432.4(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.4(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.4(NPC2):c.417_419CTG[1] (p.Cys140del) rs781255433
NM_006432.4(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.4(NPC2):c.442-1G>A rs1555345562
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.450T>C (p.His150=) rs374489111
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.4(NPC2):c.82+2T>C rs879253740
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter)
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)
NM_006432.5(NPC2):c.57C>T (p.Ala19=) rs752818745
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043
NPC2, 1-BP DEL, 111A

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