ClinVar Miner

List of variants in gene NIPA1 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_144599.5(NIPA1):c.*1981A>G rs6606822 0.99970
NM_144599.5(NIPA1):c.*1974C>A rs6606823 0.93707
NM_144599.5(NIPA1):c.*2058_*2059insTT rs3057642 0.67258
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_144599.5(NIPA1):c.*972C>T rs8025849 0.64186
NM_144599.5(NIPA1):c.*4933C>T rs7181789 0.57163
NM_144599.5(NIPA1):c.*1127C>G rs1059774 0.32452
NM_144599.5(NIPA1):c.*1927A>G rs17807140 0.28781
NM_144599.5(NIPA1):c.*287T>C rs3812924 0.22372
NM_144599.5(NIPA1):c.*2425A>G rs12902722 0.10277
NM_144599.5(NIPA1):c.*1563C>T rs72698098 0.09246
NM_144599.5(NIPA1):c.*3702C>T rs3812923 0.03905
NM_144599.5(NIPA1):c.*3278C>G rs57615013 0.02793
NM_144599.5(NIPA1):c.*2649A>G rs8027756 0.02539
NM_144599.5(NIPA1):c.*5331T>G rs73412681 0.02493
NM_144599.5(NIPA1):c.*4734G>C rs73412685 0.02429
NM_144599.5(NIPA1):c.*2469A>G rs73412688 0.02406
NM_144599.5(NIPA1):c.*5299G>C rs73412682 0.02199
NM_144599.5(NIPA1):c.*1405G>C rs7181585 0.01455
NM_144599.5(NIPA1):c.*4363C>T rs139459875 0.00774
NM_144599.5(NIPA1):c.*3910G>A rs74767096 0.00528
NM_144599.5(NIPA1):c.*3393A>T rs147611065 0.00409
NM_144599.5(NIPA1):c.*1012A>G rs186626641 0.00401
NM_144599.5(NIPA1):c.*5237G>C rs74003089 0.00338
NM_144599.5(NIPA1):c.*5044G>C rs191543264 0.00270
NM_144599.5(NIPA1):c.*4218G>A rs182099304 0.00260
NM_144599.5(NIPA1):c.*3480C>T rs112696483 0.00216
NM_144599.5(NIPA1):c.*2780G>T rs183353690 0.00189
NM_144599.5(NIPA1):c.*5071C>T rs141920126 0.00185
NM_144599.5(NIPA1):c.*4964G>A rs146129067 0.00179
NM_144599.5(NIPA1):c.*3590A>G rs145202306 0.00130
NM_144599.5(NIPA1):c.*5185C>T rs569739849 0.00127
NM_144599.5(NIPA1):c.*1007dup rs548458173 0.00118
NM_144599.5(NIPA1):c.*4885T>C rs555159081 0.00111
NM_144599.5(NIPA1):c.906C>T (p.Ser302=) rs147070285 0.00087
NM_144599.5(NIPA1):c.*2070A>C rs746614226 0.00072
NM_144599.5(NIPA1):c.*5258G>A rs181610828 0.00071
NM_144599.5(NIPA1):c.*1724C>G rs61523596 0.00069
NM_144599.5(NIPA1):c.*4774G>A rs541776619 0.00067
NM_144599.5(NIPA1):c.*4690C>A rs554203851 0.00064
NM_144599.5(NIPA1):c.*3848C>T rs561650048 0.00056
NM_144599.5(NIPA1):c.*4716G>A rs540912938 0.00055
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144599.5(NIPA1):c.*1190_*1191del rs764504513 0.00040
NM_144599.5(NIPA1):c.*2079T>G rs886050999 0.00031
NM_144599.5(NIPA1):c.*3400C>T rs577663387 0.00029
NM_144599.5(NIPA1):c.*2685T>C rs886050994 0.00028
NM_144599.5(NIPA1):c.*11G>C rs188393827 0.00026
NM_144599.5(NIPA1):c.*2543C>G rs879536673 0.00023
NM_144599.5(NIPA1):c.*1395C>T rs537516417 0.00021
NM_144599.5(NIPA1):c.*1703C>T rs763790822 0.00020
NM_144599.5(NIPA1):c.801G>T (p.Val267=) rs185222838 0.00020
NM_144599.5(NIPA1):c.*2497G>T rs183616718 0.00016
NM_144599.5(NIPA1):c.681C>T (p.Leu227=) rs200282898 0.00015
NM_144599.5(NIPA1):c.*3823G>A rs886050990 0.00014
NM_144599.5(NIPA1):c.*3280A>G rs1281408389 0.00013
NM_144599.5(NIPA1):c.*3872T>G rs528309949 0.00013
NM_144599.5(NIPA1):c.753G>C (p.Ala251=) rs199718530 0.00013
NM_144599.5(NIPA1):c.*4496A>T rs186274091 0.00010
NM_144599.5(NIPA1):c.*4895A>G rs754185572 0.00010
NM_144599.5(NIPA1):c.*5395_*5396del rs886050987 0.00010
NM_144599.5(NIPA1):c.*886C>T rs886051002 0.00010
NM_144599.5(NIPA1):c.*1115C>T rs759987319 0.00009
NM_144599.5(NIPA1):c.*3924T>C rs563261299 0.00009
NM_144599.5(NIPA1):c.*4792G>T rs139161065 0.00008
NM_144599.5(NIPA1):c.*652A>G rs886051004 0.00008
NM_144599.5(NIPA1):c.*2020C>T rs185496552 0.00007
NM_144599.5(NIPA1):c.*2405A>G rs886050995 0.00007
NM_144599.5(NIPA1):c.*3127G>A rs547238314 0.00007
NM_144599.5(NIPA1):c.*3707G>C rs373829118 0.00007
NM_144599.5(NIPA1):c.*1146T>C rs181621508 0.00006
NM_144599.5(NIPA1):c.*1330G>A rs190362420 0.00006
NM_144599.5(NIPA1):c.*1750C>G rs562165057 0.00006
NM_144599.5(NIPA1):c.*2112A>G rs566155443 0.00006
NM_144599.5(NIPA1):c.*2949C>G rs569446066 0.00006
NM_144599.5(NIPA1):c.*3316T>C rs527532188 0.00006
NM_144599.5(NIPA1):c.*3462A>G rs766376279 0.00006
NM_144599.5(NIPA1):c.*4003G>A rs1452895080 0.00006
NM_144599.5(NIPA1):c.291C>G (p.Pro97=) rs199818530 0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_144599.5(NIPA1):c.*138G>A rs544582872 0.00004
NM_144599.5(NIPA1):c.*2015G>C rs886051000 0.00004
NM_144599.5(NIPA1):c.*201A>G rs536521096 0.00004
NM_144599.5(NIPA1):c.*3703T>G rs775279166 0.00004
NM_144599.5(NIPA1):c.*3126C>T rs886050992 0.00003
NM_144599.5(NIPA1):c.*4043A>G rs1022534252 0.00003
NM_144599.5(NIPA1):c.*57G>A rs886051006 0.00003
NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr) rs750364669 0.00003
NM_144599.5(NIPA1):c.*4156A>G rs577403895 0.00002
NM_144599.5(NIPA1):c.*519T>A rs560426753 0.00002
NM_144599.5(NIPA1):c.263C>T (p.Thr88Met) rs755718518 0.00002
NM_144599.5(NIPA1):c.*1277A>C rs1045487020 0.00001
NM_144599.5(NIPA1):c.*1529C>T rs945517071 0.00001
NM_144599.5(NIPA1):c.*1788G>A rs540627450 0.00001
NM_144599.5(NIPA1):c.*1860G>A rs886051001 0.00001
NM_144599.5(NIPA1):c.*2148C>A rs886050997 0.00001
NM_144599.5(NIPA1):c.*2375A>G rs117724187 0.00001
NM_144599.5(NIPA1):c.*2465C>G rs1191576484 0.00001
NM_144599.5(NIPA1):c.*2942G>A rs1363852025 0.00001
NM_144599.5(NIPA1):c.*3008C>T rs886050993 0.00001
NM_144599.5(NIPA1):c.*4147C>T rs886050989 0.00001
NM_144599.5(NIPA1):c.*414C>T rs1216632909 0.00001
NM_144599.5(NIPA1):c.*4656G>A rs903689729 0.00001
NM_144599.5(NIPA1):c.*4677G>A rs780979919 0.00001
NM_144599.5(NIPA1):c.*531T>G rs1020166733 0.00001
NM_144599.5(NIPA1):c.*5362A>G rs1895714380 0.00001
NM_144599.5(NIPA1):c.*553C>A rs545152723 0.00001
NM_144599.5(NIPA1):c.*780G>A rs886051003 0.00001
NM_144599.5(NIPA1):c.*976C>T rs555439829 0.00001
NM_144599.5(NIPA1):c.222C>G (p.Ile74Met) rs778472114 0.00001
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) rs751391752 0.00001
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) rs138394129 0.00001
NM_144599.5(NIPA1):c.*1176T>C rs1326921965
NM_144599.5(NIPA1):c.*1845_*1846dup rs113532349
NM_144599.5(NIPA1):c.*1846dup rs113532349
NM_144599.5(NIPA1):c.*1925_*1929del rs199507682
NM_144599.5(NIPA1):c.*2106T>C rs886050998
NM_144599.5(NIPA1):c.*2209T>C rs886050996
NM_144599.5(NIPA1):c.*2246G>A rs1595649611
NM_144599.5(NIPA1):c.*2398A>G rs188278999
NM_144599.5(NIPA1):c.*2515G>C rs6606820
NM_144599.5(NIPA1):c.*2723A>C rs1895664677
NM_144599.5(NIPA1):c.*2727dup rs746846799
NM_144599.5(NIPA1):c.*2781G>T rs192859420
NM_144599.5(NIPA1):c.*2816del rs140112208
NM_144599.5(NIPA1):c.*3110C>T rs568699524
NM_144599.5(NIPA1):c.*3112dup rs556665515
NM_144599.5(NIPA1):c.*3169A>G rs886050991
NM_144599.5(NIPA1):c.*3705C>T rs866431669
NM_144599.5(NIPA1):c.*37A>T rs886051007
NM_144599.5(NIPA1):c.*3838G>A rs752012233
NM_144599.5(NIPA1):c.*3885C>T rs972270077
NM_144599.5(NIPA1):c.*4199A>G rs1895693174
NM_144599.5(NIPA1):c.*435_*436del rs10611411
NM_144599.5(NIPA1):c.*4510T>C rs528249723
NM_144599.5(NIPA1):c.*4519T>C rs1895698772
NM_144599.5(NIPA1):c.*4870T>G rs886050988
NM_144599.5(NIPA1):c.*4914G>T rs1022149490
NM_144599.5(NIPA1):c.*5430T>G rs886050986
NM_144599.5(NIPA1):c.*5474_*5477del rs747886565
NM_144599.5(NIPA1):c.*548A>C rs886051005
NM_144599.5(NIPA1):c.*647A>G rs1895618258
NM_144599.5(NIPA1):c.*709G>A rs922263881
NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala) rs886051008

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