ClinVar Miner

List of variants studied for metachromatic leukodystrophy by Natera, Inc.

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1108-32C>T rs762673 0.74934
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_002778.4(PSAP):c.-4C>T rs2070188 0.12811
NM_000487.6(ARSA):c.1108-60C>T rs873697 0.05763
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230 0.01000
NM_002778.4(PSAP):c.78C>T (p.Thr26=) rs74145688 0.00850
NM_002778.4(PSAP):c.204C>T (p.Asp68=) rs143981174 0.00484
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe) rs148279196 0.00269
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_002778.4(PSAP):c.120C>T (p.Ser40=) rs141231601 0.00134
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser) rs6151427 0.00096
NM_000487.6(ARSA):c.564C>T (p.Ser188=) rs113209108 0.00071
NM_000487.6(ARSA):c.1251C>T (p.His417=) rs140158705 0.00066
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr) rs145157196 0.00040
NM_002778.4(PSAP):c.577G>C (p.Asp193His) rs149305591 0.00039
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_002778.4(PSAP):c.966G>A (p.Val322=) rs139413990 0.00037
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly) rs138636858 0.00036
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_002778.4(PSAP):c.117G>A (p.Ala39=) rs200836594 0.00029
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe) rs532242066 0.00024
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=) rs146925179 0.00021
NM_000487.6(ARSA):c.14C>T (p.Ala5Val) rs201315540 0.00018
NM_002778.4(PSAP):c.1381G>A (p.Val461Met) rs138716613 0.00014
NM_000487.6(ARSA):c.972C>T (p.Ile324=) rs200567315 0.00011
NM_002778.4(PSAP):c.855C>T (p.Ala285=) rs1040901231 0.00011
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val) rs201693608 0.00009
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met) rs140066253 0.00009
NM_002778.4(PSAP):c.588C>T (p.Asp196=) rs374869360 0.00008
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser) rs200319381 0.00008
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_002778.4(PSAP):c.864C>T (p.Ala288=) rs747491605 0.00007
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475 0.00006
NM_000487.6(ARSA):c.228C>T (p.Ala76=) rs371930403 0.00006
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn) rs369786038 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp) rs907795869 0.00006
NM_002778.4(PSAP):c.1017C>T (p.Leu339=) rs146778046 0.00006
NM_002778.4(PSAP):c.1389C>T (p.Ile463=) rs762811199 0.00005
NM_002778.4(PSAP):c.41-17_41-9dup rs768077397 0.00005
NM_002778.4(PSAP):c.852C>T (p.Pro284=) rs370435627 0.00005
NM_000487.6(ARSA):c.1006C>T (p.Leu336=) rs778950224 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181 0.00004
NM_000487.6(ARSA):c.591C>T (p.Pro197=) rs34457249 0.00004
NM_002778.4(PSAP):c.1281C>T (p.Ser427=) rs529776324 0.00004
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln) rs770893932 0.00004
NM_002778.4(PSAP):c.414C>T (p.Cys138=) rs769564352 0.00004
NM_002778.4(PSAP):c.589G>A (p.Val197Ile) rs191952316 0.00004
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln) rs773913014 0.00004
NM_002778.4(PSAP):c.6C>T (p.Tyr2=) rs774482765 0.00004
NM_000487.6(ARSA):c.1107+9G>A rs768146306 0.00003
NM_000487.6(ARSA):c.1332G>T (p.Leu444=) rs540031338 0.00003
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr) rs765893073 0.00003
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp) rs747443475 0.00003
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln) rs573456864 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=) rs572916661 0.00003
NM_002778.4(PSAP):c.1432-3T>C rs200577646 0.00003
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser) rs143773764 0.00003
NM_002778.4(PSAP):c.1537A>G (p.Asn513Asp) rs778904848 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr) rs1421381874 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422 0.00002
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg) rs144393886 0.00002
NM_000487.6(ARSA):c.828G>A (p.Thr276=) rs370585019 0.00002
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn) rs759154767 0.00002
NM_002778.4(PSAP):c.10C>G (p.Leu4Val) rs574280149 0.00002
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp) rs754680319 0.00002
NM_002778.4(PSAP):c.1196A>G (p.His399Arg) rs756831806 0.00002
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg) rs554592821 0.00002
NM_002778.4(PSAP):c.153C>T (p.Thr51=) rs11555016 0.00002
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys) rs753606836 0.00002
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys) rs770171865 0.00002
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys) rs1431665170 0.00002
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu) rs973061258 0.00001
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr) rs1278738755 0.00001
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer) rs398123414 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser) rs578188411 0.00001
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131 0.00001
NM_000487.6(ARSA):c.610A>G (p.Met204Val) rs1569080377 0.00001
NM_000487.6(ARSA):c.639C>T (p.Asp213=) rs1266367694 0.00001
NM_000487.6(ARSA):c.684+1G>A rs146371968 0.00001
NM_000487.6(ARSA):c.684+7G>A rs1161167884 0.00001
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470 0.00001
NM_000487.6(ARSA):c.737G>A (p.Arg246His) rs199476366 0.00001
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser) rs199476384 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472 0.00001
NM_000487.6(ARSA):c.867G>A (p.Met289Ile) rs761919002 0.00001
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser) rs199476349 0.00001
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr) rs1338627220 0.00001
NM_000487.6(ARSA):c.990C>T (p.His330=) rs768366772 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1173G>A (p.Thr391=) rs368085481 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu) rs558427025 0.00001
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn) rs540436494 0.00001
NM_002778.4(PSAP):c.1422C>T (p.Phe474=) rs528318545 0.00001
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser) rs539091862 0.00001
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser) rs570654892 0.00001
NM_002778.4(PSAP):c.26G>A (p.Ser9Asn) rs746678274 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_000487.6(ARSA):c.1107+1del rs1057517036
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter) rs148352371
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu) rs6151428
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro) rs759295985
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.302G>T (p.Gly101Val) rs74315455
NM_000487.6(ARSA):c.302dup (p.Leu102fs) rs761606317
NM_000487.6(ARSA):c.355C>G (p.Leu119Val) rs1569081347
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg) rs199476375
NM_000487.6(ARSA):c.495G>A (p.Pro165=) rs145299072
NM_000487.6(ARSA):c.495_501del (p.Pro166fs) rs1057517429
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.622del (p.His208fs) rs1555900900
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro) rs199476341
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys) rs74315483
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro) rs28940894
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp) rs199476356
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala) rs765744298
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp) rs775169672
NM_002778.4(PSAP):c.1138C>T (p.Leu380=) rs751199102
NM_002778.4(PSAP):c.1233G>A (p.Val411=) rs751867103
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg) rs1419823465
NM_002778.4(PSAP):c.1557A>G (p.Lys519=) rs751061015
NM_002778.4(PSAP):c.1A>G (p.Met1Val) rs121918106
NM_002778.4(PSAP):c.409C>G (p.Leu137Val) rs377027316
NM_002778.4(PSAP):c.41C>T (p.Ala14Val) rs1842584616
NM_002778.4(PSAP):c.450C>A (p.His150Gln) rs757752213
NM_002778.4(PSAP):c.503T>C (p.Val168Ala) rs773142808
NM_002778.4(PSAP):c.570G>A (p.Gln190=) rs142272618
NM_002778.4(PSAP):c.587A>G (p.Asp196Gly) rs1842431098
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly) rs969229358

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