ClinVar Miner

List of variants studied for Niemann-Pick disease type C by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_000271.4(NPC1):c.-179C>T rs145693774
NM_000271.4(NPC1):c.-238C>G rs8099071
NM_000271.4(NPC1):c.-272A>C rs540866381
NM_000271.5(NPC1):c.*109T>G rs188980155
NM_000271.5(NPC1):c.*164T>C rs8086463
NM_000271.5(NPC1):c.*191C>A rs534888589
NM_000271.5(NPC1):c.*202C>T rs535059744
NM_000271.5(NPC1):c.*309_*315del rs145236115
NM_000271.5(NPC1):c.*334T>A rs886053664
NM_000271.5(NPC1):c.*349G>A rs886053663
NM_000271.5(NPC1):c.*485dup rs757215027
NM_000271.5(NPC1):c.*500A>G rs886053662
NM_000271.5(NPC1):c.-100C>G rs553740667
NM_000271.5(NPC1):c.-135C>T rs886053669
NM_000271.5(NPC1):c.-154C>T rs746297876
NM_000271.5(NPC1):c.-22A>C rs2303880
NM_000271.5(NPC1):c.-29C>G rs762126552
NM_000271.5(NPC1):c.-31G>A rs886053668
NM_000271.5(NPC1):c.-32C>T rs114070977
NM_000271.5(NPC1):c.-36A>C rs750622739
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.1920del (p.His641fs) rs886042270
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>T rs886053666
NM_000271.5(NPC1):c.1947+12_1947+13insGGGGC rs199713263
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.1947+14G>T rs3745024
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241
NM_000271.5(NPC1):c.1947+6C>G rs745432812
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670
NM_000271.5(NPC1):c.2090T>C (p.Val697Ala) rs886053665
NM_000271.5(NPC1):c.2103C>T (p.Asn701=) rs7227375
NM_000271.5(NPC1):c.2131-1del rs1567954054
NM_000271.5(NPC1):c.2131A>G (p.Arg711Gly) rs759292620
NM_000271.5(NPC1):c.2269G>A (p.Val757Met) rs777156729
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795
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.2373+14A>G rs771523995
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883
NM_000271.5(NPC1):c.2514+6C>T rs73392120
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn) rs528841924
NM_000271.5(NPC1):c.2734A>G (p.Met912Val) rs746398811
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3755-16TC[5] rs760529810
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.612C>T (p.Thr204=) rs151084683
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514
NM_000271.5(NPC1):c.799G>A (p.Ala267Thr) rs886053667
NM_000271.5(NPC1):c.946A>G (p.Ser316Gly) rs748432821
NM_000271.5(NPC1):c.966C>T (p.Ser322=) rs61731965
NM_006432.4(NPC2):c.*237G>A rs185533644
NM_006432.4(NPC2):c.*271C>T rs75936194
NM_006432.4(NPC2):c.*295C>G rs113587712
NM_006432.4(NPC2):c.-68G>T rs578161135
NM_006432.4(NPC2):c.-89G>A rs574247323
NM_006432.4(NPC2):c.133C>T (p.Gln45Ter) rs80358262
NM_006432.4(NPC2):c.190+14G>A rs189666920
NM_006432.4(NPC2):c.212A>G (p.Lys71Arg) rs142075589
NM_006432.4(NPC2):c.332del (p.Asn111fs) rs80358265
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.442-4A>C rs114950106

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