ClinVar Miner

List of variants reported as pathogenic for Niemann-Pick disease, type C2 by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter) rs80358263 0.00001
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg) rs80358264 0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser) rs104894458 0.00001
NC_000014.8:g.(?_74946967)_(74947492_?)del
NC_000014.8:g.(?_74951108)_(74953149_?)del
NC_000014.8:g.(?_74959886)_(74959987_?)del
NC_000014.9:g.(?_74480264)_(74493284_?)del
NM_006432.5(NPC2):c.106G>T (p.Glu36Ter) rs2139670174
NM_006432.5(NPC2):c.129del (p.Thr44fs)
NM_006432.5(NPC2):c.12_18del (p.Ala5fs)
NM_006432.5(NPC2):c.130_131del (p.Thr44fs)
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.5(NPC2):c.165C>G (p.Tyr55Ter) rs2086712268
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs) rs2086689501
NM_006432.5(NPC2):c.279dup (p.Lys94Ter) rs1376058648
NM_006432.5(NPC2):c.281dup (p.Ser95fs) rs2139668010
NM_006432.5(NPC2):c.2T>A (p.Met1Lys)
NM_006432.5(NPC2):c.2T>G (p.Met1Arg)
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter) rs80358266
NM_006432.5(NPC2):c.3G>A (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>C (p.Met1Ile) rs483352893
NM_006432.5(NPC2):c.3G>T (p.Met1Ile)
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter) rs1555345616
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043

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