ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
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.141C>A (p.Cys47Ter) rs80358263
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.199T>C (p.Ser67Pro) rs11694
NM_006432.4(NPC2):c.27del (p.Leu10fs) rs80358267
NM_006432.4(NPC2):c.295T>C (p.Cys99Arg) rs80358264
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
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.3G>C (p.Met1Ile) rs483352893
NM_006432.4(NPC2):c.436C>T (p.Gln146Ter) rs104894457
NM_006432.4(NPC2):c.441+1G>A rs140130028
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.210_213dup (p.Ala72fs)
NM_006432.5(NPC2):c.79dup (p.Cys27fs) rs767899043
NPC2, 1-BP DEL, 111A

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