ClinVar Miner

List of variants reported as uncertain significance for Choreoacanthocytosis by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 81
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HGVS dbSNP
NM_015186.3(VPS13A):c.-232G>C rs545092496
NM_033305.3(VPS13A):c.*1095A>G rs956751748
NM_033305.3(VPS13A):c.*1248_*1251dup rs1057515668
NM_033305.3(VPS13A):c.*133_*136CAAA[1] rs914078686
NM_033305.3(VPS13A):c.*185A>G rs773434698
NM_033305.3(VPS13A):c.*274_*276AGA[1] rs147672353
NM_033305.3(VPS13A):c.*279A>T rs191865643
NM_033305.3(VPS13A):c.*481G>A rs1057515664
NM_033305.3(VPS13A):c.*503C>A rs1057515665
NM_033305.3(VPS13A):c.*774_*776del rs549219168
NM_033305.3(VPS13A):c.*81A>G rs1057515661
NM_033305.3(VPS13A):c.-148C>T rs555695029
NM_033305.3(VPS13A):c.-150C>T rs560445300
NM_033305.3(VPS13A):c.-158G>C rs1057515644
NM_033305.3(VPS13A):c.101-14T>G rs202024224
NM_033305.3(VPS13A):c.1061A>G (p.His354Arg) rs202123189
NM_033305.3(VPS13A):c.1303T>C (p.Trp435Arg) rs550188251
NM_033305.3(VPS13A):c.1396C>T (p.Leu466Phe) rs1042881230
NM_033305.3(VPS13A):c.1453-15C>T rs200334710
NM_033305.3(VPS13A):c.1596-10_1596-8del rs748907586
NM_033305.3(VPS13A):c.159A>G (p.Val53=) rs1057515645
NM_033305.3(VPS13A):c.1744T>C (p.Cys582Arg) rs1057515651
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.3(VPS13A):c.1792G>C (p.Val598Leu) rs759600403
NM_033305.3(VPS13A):c.1900+9C>T rs773690202
NM_033305.3(VPS13A):c.2037+8C>A rs41289961
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=) rs199682779
NM_033305.3(VPS13A):c.2170+13T>C rs183087425
NM_033305.3(VPS13A):c.2175T>G (p.Asp725Glu) rs1057515652
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408
NM_033305.3(VPS13A):c.2240A>G (p.Asn747Ser) rs189129300
NM_033305.3(VPS13A):c.2440A>G (p.Thr814Ala) rs564878665
NM_033305.3(VPS13A):c.2667+11C>T rs375898960
NM_033305.3(VPS13A):c.295_297del (p.Asp99del) rs759258746
NM_033305.3(VPS13A):c.3282C>T (p.Asn1094=) rs372019796
NM_033305.3(VPS13A):c.3340-5_3340-3del rs746510956
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=) rs138687767
NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=) rs189138644
NM_033305.3(VPS13A):c.3813-6T>C rs1057515654
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn) rs148891181
NM_033305.3(VPS13A):c.4909A>C (p.Thr1637Pro) rs757415947
NM_033305.3(VPS13A):c.4979C>G (p.Thr1660Ser) rs139073067
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393
NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn) rs1034458059
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.6074A>G (p.Asn2025Ser) rs371055567
NM_033305.3(VPS13A):c.6131A>G (p.Tyr2044Cys) rs754391863
NM_033305.3(VPS13A):c.6379-12T>G rs865850464
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly) rs114232513
NM_033305.3(VPS13A):c.6591T>C (p.Ala2197=) rs1057515657
NM_033305.3(VPS13A):c.6906T>A (p.Ser2302Arg) rs771133301
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_033305.3(VPS13A):c.7231G>T (p.Ala2411Ser) rs760875004
NM_033305.3(VPS13A):c.7237A>G (p.Thr2413Ala) rs1057515659
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His) rs766585218
NM_033305.3(VPS13A):c.7715A>G (p.Lys2572Arg) rs202148808
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.3(VPS13A):c.7811G>A (p.Arg2604His) rs762985818
NM_033305.3(VPS13A):c.8140A>C (p.Arg2714=) rs368161466
NM_033305.3(VPS13A):c.8157T>C (p.Phe2719=) rs755095881
NM_033305.3(VPS13A):c.8212-15G>A rs771085531
NM_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr) rs138308486
NM_033305.3(VPS13A):c.8649T>G (p.Phe2883Leu) rs757219762
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.3(VPS13A):c.8766C>T (p.Ser2922=) rs201517936
NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=) rs17081163
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=) rs143089318
NM_033305.3(VPS13A):c.9193A>G (p.Met3065Val) rs1057515660
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984
NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His) rs141321409
NM_033305.3(VPS13A):c.9326G>A (p.Trp3109Ter) rs773932109
NM_033305.3(VPS13A):c.9382T>C (p.Leu3128=) rs34255276
NM_033305.3(VPS13A):c.9400-15A>C rs117688596
NM_033305.3(VPS13A):c.981C>T (p.Ala327=) rs368425803
NM_033305.3(VPS13A):c.989+28del rs751974264

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