ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 284
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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.441A>G (p.Thr147=) rs11263683 0.65973
NM_144599.5(NIPA1):c.*972C>T rs8025849 0.65255
NM_144599.5(NIPA1):c.*4933C>T rs7181789 0.57025
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.*2469A>G rs73412688 0.02406
NM_144599.5(NIPA1):c.*5299G>C rs73412682 0.02310
NM_144599.5(NIPA1):c.*4734G>C rs73412685 0.02303
NM_144599.5(NIPA1):c.*1405G>C rs7181585 0.01455
NM_144599.5(NIPA1):c.*4363C>T rs139459875 0.00724
NM_144599.5(NIPA1):c.*3910G>A rs74767096 0.00528
NM_144599.5(NIPA1):c.*3393A>T rs147611065 0.00427
NM_144599.5(NIPA1):c.*1012A>G rs186626641 0.00366
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 0.00240
NM_144599.5(NIPA1):c.*3480C>T rs112696483 0.00216
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.*2780G>T rs183353690 0.00178
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.*4885T>C rs555159081 0.00106
NM_144599.5(NIPA1):c.906C>T (p.Ser302=) rs147070285 0.00080
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 0.00066
NM_144599.5(NIPA1):c.*4690C>A rs554203851 0.00060
NM_144599.5(NIPA1):c.*3848C>T rs561650048 0.00055
NM_144599.5(NIPA1):c.*4716G>A rs540912938 0.00054
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144599.5(NIPA1):c.*11G>C rs188393827 0.00036
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.21A>G (p.Ala7=) rs749414711 0.00027
NM_144599.5(NIPA1):c.*1395C>T rs537516417 0.00021
NM_144599.5(NIPA1):c.*2543C>G rs879536673 0.00021
NM_144599.5(NIPA1):c.*4895A>G rs754185572 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 0.00019
NM_144599.5(NIPA1):c.*3872T>G rs528309949 0.00015
NM_144599.5(NIPA1):c.*4792G>T rs139161065 0.00015
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.753G>C (p.Ala251=) rs199718530 0.00013
NM_144599.5(NIPA1):c.525C>T (p.Leu175=) rs769522060 0.00012
NM_144599.5(NIPA1):c.*3280A>G rs1281408389 0.00011
NM_144599.5(NIPA1):c.315C>T (p.Phe105=) rs373273269 0.00011
NM_144599.5(NIPA1):c.*4496A>T rs186274091 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.*3462A>G rs766376279 0.00009
NM_144599.5(NIPA1):c.*3924T>C rs563261299 0.00009
NM_144599.5(NIPA1):c.*652A>G rs886051004 0.00008
NM_144599.5(NIPA1):c.448G>T (p.Ala150Ser) rs376665085 0.00008
NM_144599.5(NIPA1):c.*2405A>G rs886050995 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.*2020C>T rs185496552 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.*4003G>A rs1452895080 0.00006
NM_144599.5(NIPA1):c.291C>G (p.Pro97=) rs199818530 0.00006
NM_144599.5(NIPA1):c.479-20G>C rs372189145 0.00006
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_144599.5(NIPA1):c.711C>T (p.Leu237=) rs773200808 0.00006
NM_144599.5(NIPA1):c.774G>A (p.Ser258=) rs371993191 0.00006
NM_144599.5(NIPA1):c.8C>T (p.Thr3Ile) rs1361753522 0.00005
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.*4510T>C rs528249723 0.00004
NM_144599.5(NIPA1):c.*57G>A rs886051006 0.00004
NM_144599.5(NIPA1):c.109G>A (p.Val37Met) rs772029587 0.00004
NM_144599.5(NIPA1):c.471C>G (p.Thr157=) rs200540082 0.00004
NM_144599.5(NIPA1):c.90C>G (p.Leu30=) rs776212895 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.179-4A>G rs768609874 0.00003
NM_144599.5(NIPA1):c.242T>C (p.Ile81Thr) rs750364669 0.00003
NM_144599.5(NIPA1):c.264G>A (p.Thr88=) rs749905981 0.00003
NM_144599.5(NIPA1):c.702G>A (p.Leu234=) rs891513416 0.00003
NM_144599.5(NIPA1):c.759G>A (p.Glu253=) rs781769053 0.00003
NM_144599.5(NIPA1):c.795C>T (p.Tyr265=) rs750160025 0.00003
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) rs138394129 0.00003
NM_144599.5(NIPA1):c.*4156A>G rs577403895 0.00002
NM_144599.5(NIPA1):c.*4677G>A rs780979919 0.00002
NM_144599.5(NIPA1):c.*519T>A rs560426753 0.00002
NM_144599.5(NIPA1):c.14C>T (p.Ala5Val) rs2504911108 0.00002
NM_144599.5(NIPA1):c.399C>T (p.Ser133=) rs374424039 0.00002
NM_144599.5(NIPA1):c.606C>T (p.Thr202=) rs532211468 0.00002
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu) rs779693743 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.*2246G>A rs1595649611 0.00001
NM_144599.5(NIPA1):c.*2375A>G rs117724187 0.00001
NM_144599.5(NIPA1):c.*2398A>G rs188278999 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.*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.121G>A (p.Val41Met) rs2140841479 0.00001
NM_144599.5(NIPA1):c.126C>T (p.Asn42=) rs748012969 0.00001
NM_144599.5(NIPA1):c.139G>A (p.Val47Met) rs2504912016 0.00001
NM_144599.5(NIPA1):c.150G>A (p.Lys50=) rs749385624 0.00001
NM_144599.5(NIPA1):c.154G>A (p.Gly52Ser) rs1382408147 0.00001
NM_144599.5(NIPA1):c.204G>A (p.Val68=) rs781548508 0.00001
NM_144599.5(NIPA1):c.222C>G (p.Ile74Met) rs778472114 0.00001
NM_144599.5(NIPA1):c.226+19G>A rs1459069786 0.00001
NM_144599.5(NIPA1):c.227-5G>C rs1316207962 0.00001
NM_144599.5(NIPA1):c.263C>T (p.Thr88Met) rs755718518 0.00001
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) rs751391752 0.00001
NM_144599.5(NIPA1):c.275C>T (p.Thr92Met) rs765306724 0.00001
NM_144599.5(NIPA1):c.292C>T (p.Leu98=) rs1235395631 0.00001
NM_144599.5(NIPA1):c.311C>T (p.Pro104Leu) rs773462083 0.00001
NM_144599.5(NIPA1):c.324T>C (p.Ile108=) rs748004567 0.00001
NM_144599.5(NIPA1):c.32C>T (p.Ala11Val) rs1395086841 0.00001
NM_144599.5(NIPA1):c.417C>T (p.His139=) rs2140874968 0.00001
NM_144599.5(NIPA1):c.479-7G>T rs758551462 0.00001
NM_144599.5(NIPA1):c.479-9G>A rs1566789035 0.00001
NM_144599.5(NIPA1):c.49G>A (p.Gly17Arg) rs780312828 0.00001
NM_144599.5(NIPA1):c.501C>T (p.Ile167=) rs766904699 0.00001
NM_144599.5(NIPA1):c.502G>A (p.Val168Met) rs761465310 0.00001
NM_144599.5(NIPA1):c.51G>C (p.Gly17=) rs1252900673 0.00001
NM_144599.5(NIPA1):c.549T>C (p.His183=) rs1895593601 0.00001
NM_144599.5(NIPA1):c.662C>T (p.Pro221Leu) rs781753198 0.00001
NM_144599.5(NIPA1):c.706G>A (p.Val236Met) rs766212364 0.00001
NM_144599.5(NIPA1):c.726C>T (p.Ile242=) rs143840469 0.00001
NM_144599.5(NIPA1):c.727G>C (p.Val243Leu) rs775960315 0.00001
NM_144599.5(NIPA1):c.765C>T (p.Phe255=) rs369533629 0.00001
NM_144599.5(NIPA1):c.796G>A (p.Val266Ile) rs1448589516 0.00001
NM_144599.5(NIPA1):c.798C>T (p.Val266=) rs1008907564 0.00001
NM_144599.5(NIPA1):c.841C>T (p.Arg281Trp) rs1011104387 0.00001
NM_144599.5(NIPA1):c.856G>A (p.Val286Met) rs531256830 0.00001
NM_144599.5(NIPA1):c.864G>T (p.Leu288=) rs748735198 0.00001
NM_144599.5(NIPA1):c.928G>A (p.Val310Met) rs1162539945 0.00001
NC_000015.10:g.(?_22786632)_(22829789_?)del
NC_000015.10:g.(?_22786637)_(22812273_?)del
NC_000015.10:g.(?_22786637)_(22824259_?)del
NC_000015.10:g.(?_22786647)_(22824249_?)del
NC_000015.10:g.(?_22786657)_(23032029_?)del
NC_000015.9:g.(?_23006221)_(23086411_?)del
NC_000015.9:g.(?_23006221)_(23086411_?)dup
NC_000015.9:g.(?_23021178)_(23049360_?)dup
NC_000015.9:g.(?_23043279)_(23086436_?)dup
NC_000015.9:g.(?_23048819)_(23086421_?)dup
NC_000015.9:g.(?_23048829)_(23052755_?)del
NC_000015.9:g.(?_23086214)_(23086411_?)del
NC_000015.9:g.(?_23086214)_(23086411_?)dup
NM_144599.5(NIPA1):c.*1176T>C rs1326921965
NM_144599.5(NIPA1):c.*2106T>C rs886050998
NM_144599.5(NIPA1):c.*2209T>C rs886050996
NM_144599.5(NIPA1):c.*2515G>C rs6606820
NM_144599.5(NIPA1):c.*2723A>C rs1895664677
NM_144599.5(NIPA1):c.*2781G>T rs192859420
NM_144599.5(NIPA1):c.*3110C>T rs568699524
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.*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.*548A>C rs886051005
NM_144599.5(NIPA1):c.*647A>G rs1895618258
NM_144599.5(NIPA1):c.*709G>A rs922263881
NM_144599.5(NIPA1):c.106G>T (p.Val36Phe) rs772941328
NM_144599.5(NIPA1):c.12_17del (p.Ala15_Ala16del) rs1192699698
NM_144599.5(NIPA1):c.130T>G (p.Ser44Ala) rs1595626779
NM_144599.5(NIPA1):c.134C>G (p.Thr45Arg) rs104894496
NM_144599.5(NIPA1):c.15_23del (p.Ala14_Ala16del) rs1204568027
NM_144599.5(NIPA1):c.160G>A (p.Val54Met) rs2140841523
NM_144599.5(NIPA1):c.166G>A (p.Ala56Thr) rs2504912118
NM_144599.5(NIPA1):c.178+9G>A rs1259857257
NM_144599.5(NIPA1):c.179-11A>C rs2504968324
NM_144599.5(NIPA1):c.179-5T>C rs774341557
NM_144599.5(NIPA1):c.179-9T>C rs1895300749
NM_144599.5(NIPA1):c.17C>A (p.Ala6Glu) rs944860201
NM_144599.5(NIPA1):c.17C>G (p.Ala6Gly) rs944860201
NM_144599.5(NIPA1):c.17C>T (p.Ala6Val) rs944860201
NM_144599.5(NIPA1):c.18_20dup (p.Ala16_Gly17insAla)
NM_144599.5(NIPA1):c.19G>A (p.Ala7Thr) rs1894707917
NM_144599.5(NIPA1):c.1A>G (p.Met1Val) rs1310579113
NM_144599.5(NIPA1):c.20C>T (p.Ala7Val) rs1416457811
NM_144599.5(NIPA1):c.216C>G (p.Gly72=) rs1016761294
NM_144599.5(NIPA1):c.217A>C (p.Thr73Pro) rs771487226
NM_144599.5(NIPA1):c.21_23del (p.Ala16del) rs769916931
NM_144599.5(NIPA1):c.21_26del (p.Ala15_Ala16del) rs1555371600
NM_144599.5(NIPA1):c.21_26dup (p.Ala15_Ala16dup) rs1555371600
NM_144599.5(NIPA1):c.21_29del (p.Ala14_Ala16del) rs1555371599
NM_144599.5(NIPA1):c.21_35del (p.Ala12_Ala16del) rs923733816
NM_144599.5(NIPA1):c.21_38del (p.Ala11_Ala16del) rs1314889289
NM_144599.5(NIPA1):c.21_47del (p.Ala8_Ala16del) rs1894707658
NM_144599.5(NIPA1):c.222C>T (p.Ile74=) rs778472114
NM_144599.5(NIPA1):c.226A>G (p.Met76Val) rs753319354
NM_144599.5(NIPA1):c.227T>C (p.Met76Thr) rs2504970915
NM_144599.5(NIPA1):c.228G>A (p.Met76Ile) rs1895330420
NM_144599.5(NIPA1):c.24G>T (p.Ala8=) rs1277721817
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[11] (p.Ala14_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[12] (p.Ala13_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[1] (p.Ala10_Ala16del)
NM_144599.5(NIPA1):c.24GGC[2] (p.Ala11_Ala16del)
NM_144599.5(NIPA1):c.24GGC[3] (p.Ala12_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[4] (p.Ala13_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[5] (p.Ala14_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[6] (p.Ala15_Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_144599.5(NIPA1):c.24GGC[9] (p.Ala16dup) rs531550505
NM_144599.5(NIPA1):c.257C>G (p.Ala86Gly) rs1555373315
NM_144599.5(NIPA1):c.28G>A (p.Ala10Thr) rs2504911401
NM_144599.5(NIPA1):c.291C>A (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.291C>T (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.292C>A (p.Leu98Met) rs1235395631
NM_144599.5(NIPA1):c.299C>T (p.Ala100Val) rs1356799862
NM_144599.5(NIPA1):c.29_30insAGCGGC (p.Ala16_Gly17insAlaAla) rs2504911367
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) rs104894490
NM_144599.5(NIPA1):c.316G>C (p.Gly106Arg) rs104894490
NM_144599.5(NIPA1):c.317+13A>G rs372614917
NM_144599.5(NIPA1):c.318-12T>G rs2503810281
NM_144599.5(NIPA1):c.318-6A>G
NM_144599.5(NIPA1):c.32C>G (p.Ala11Gly) rs1395086841
NM_144599.5(NIPA1):c.403G>A (p.Val135Met) rs763295984
NM_144599.5(NIPA1):c.40G>A (p.Ala14Thr) rs1346667835
NM_144599.5(NIPA1):c.411T>C (p.Ile137=) rs1202986314
NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala) rs886051008
NM_144599.5(NIPA1):c.432G>A (p.Glu144=) rs150900309
NM_144599.5(NIPA1):c.45G>A (p.Ala15=) rs1555371616
NM_144599.5(NIPA1):c.477A>G (p.Pro159=) rs2140875018
NM_144599.5(NIPA1):c.479-11C>T rs2140877624
NM_144599.5(NIPA1):c.479-7G>A rs758551462
NM_144599.5(NIPA1):c.480G>A (p.Val160=) rs2503819780
NM_144599.5(NIPA1):c.508C>G (p.Leu170Val) rs1895592461
NM_144599.5(NIPA1):c.511A>T (p.Met171Leu) rs762651676
NM_144599.5(NIPA1):c.562A>G (p.Ile188Val)
NM_144599.5(NIPA1):c.573C>T (p.Tyr191=) rs2503820116
NM_144599.5(NIPA1):c.642A>C (p.Gln214His) rs1240373706
NM_144599.5(NIPA1):c.646A>G (p.Ile216Val)
NM_144599.5(NIPA1):c.67C>T (p.Pro23Ser) rs1404917638
NM_144599.5(NIPA1):c.6G>C (p.Gly2=) rs1894706360
NM_144599.5(NIPA1):c.701T>C (p.Leu234Pro) rs2503820755
NM_144599.5(NIPA1):c.70A>G (p.Ser24Gly) rs1478186050
NM_144599.5(NIPA1):c.731A>G (p.Gln244Arg) rs1895598333
NM_144599.5(NIPA1):c.748A>C (p.Lys250Gln) rs1489382661
NM_144599.5(NIPA1):c.768C>T (p.Asp256=)
NM_144599.5(NIPA1):c.774G>T (p.Ser258=) rs371993191
NM_144599.5(NIPA1):c.797T>A (p.Val266Asp) rs2503821146
NM_144599.5(NIPA1):c.801G>A (p.Val267=) rs185222838
NM_144599.5(NIPA1):c.806C>T (p.Thr269Ile) rs2140877924
NM_144599.5(NIPA1):c.837C>T (p.Leu279=) rs376319442
NM_144599.5(NIPA1):c.853A>G (p.Asn285Asp)
NM_144599.5(NIPA1):c.894C>T (p.Phe298=) rs1555374032
NM_144599.5(NIPA1):c.896C>T (p.Thr299Met) rs756976675
NM_144599.5(NIPA1):c.897G>T (p.Thr299=) rs368507906
NM_144599.5(NIPA1):c.907G>C (p.Val303Leu) rs765591536
NM_144599.5(NIPA1):c.99C>T (p.Gly33=) rs1370367415

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