ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease type C by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NC_000014.9:g.(?_74480254)_(74486456_?)del
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln) rs150053420
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe) rs1435915496
NM_000271.5(NPC1):c.1321C>T (p.His441Tyr)
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1480G>A (p.Val494Met) rs199812609
NM_000271.5(NPC1):c.1506_1508CTT[1] (p.Phe504del) rs1555636605
NM_000271.5(NPC1):c.1548C>G (p.Cys516Trp)
NM_000271.5(NPC1):c.1729C>T (p.Leu577Phe)
NM_000271.5(NPC1):c.1766A>G (p.Asn589Ser) rs147021046
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys) rs745777805
NM_000271.5(NPC1):c.2234C>A (p.Ala745Glu) rs752386083
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp)
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe) rs759628748
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
NM_000271.5(NPC1):c.2604+8_2604+71del
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
NM_000271.5(NPC1):c.2767A>G (p.Ile923Val)
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met) rs767343173
NM_000271.5(NPC1):c.3183A>G (p.Ile1061Met)
NM_000271.5(NPC1):c.3205A>G (p.Met1069Val) rs1567946736
NM_000271.5(NPC1):c.3263A>G (p.Tyr1088Cys) rs28942106
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3460_3471del (p.Leu1154_Leu1157del)
NM_000271.5(NPC1):c.350A>G (p.Gln117Arg) rs1567977251
NM_000271.5(NPC1):c.3525C>A (p.Phe1175Leu)
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met) rs558264503
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321
NM_000271.5(NPC1):c.3679A>G (p.Arg1227Gly)
NM_000271.5(NPC1):c.3694A>G (p.Met1232Val)
NM_000271.5(NPC1):c.3802A>G (p.Lys1268Glu)
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln) rs151305963
NM_000271.5(NPC1):c.463+3A>G
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr) rs199963560
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn) rs201021988
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp)
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser) rs549048534
NM_000271.5(NPC1):c.760C>G (p.Pro254Ala)
NM_000271.5(NPC1):c.810_812CAT[1] (p.Ile271del) rs1243863645
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys) rs138151007
NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) rs142075589
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)

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