ClinVar Miner

List of variants studied for Niemann-Pick disease, type C2 by Invitae

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Total variants: 21
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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.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.212A>G (p.Lys71Arg) rs142075589
NM_006432.4(NPC2):c.295T>C (p.Cys99Arg) rs80358264
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.441+1G>A rs140130028
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.88G>A (p.Val30Met) rs151220873
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

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