ClinVar Miner

List of variants studied for hereditary sensory and autonomic neuropathy with spastic paraplegia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.*1172G>T rs2578638 0.93037
NM_012073.5(CCT5):c.*593A>G rs2578640 0.74295
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_012073.5(CCT5):c.*67A>G rs544 0.73487
NM_012073.5(CCT5):c.*181C>T rs699113 0.73464
NM_012073.5(CCT5):c.*567G>A rs2607286 0.73457
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.*383A>G rs2662533 0.73426
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426
NM_012073.5(CCT5):c.*824C>G rs2578639 0.71210
NM_012073.5(CCT5):c.*382C>T rs2578641 0.22645
NM_012073.5(CCT5):c.738G>A (p.Ala246=) rs11557649 0.03346
NM_012073.5(CCT5):c.*856A>C rs72738998 0.02833
NM_012073.5(CCT5):c.*1377C>G rs11956986 0.02353
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_012073.5(CCT5):c.*866A>C rs114441137 0.01043
NM_012073.5(CCT5):c.1194G>A (p.Ala398=) rs113262482 0.00768
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_012073.5(CCT5):c.*320T>C rs186512015 0.00389
NM_012073.5(CCT5):c.*1400A>G rs140380065 0.00377
NM_012073.5(CCT5):c.*670T>A rs114402073 0.00354
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.*487C>T rs144767471 0.00337
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_012073.5(CCT5):c.*776T>C rs553660590 0.00072
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_012073.5(CCT5):c.*882C>G rs529512144 0.00054
NM_012073.5(CCT5):c.*1042T>C rs376234447 0.00051
NM_012073.5(CCT5):c.*1087A>T rs190835896 0.00051
NM_012073.5(CCT5):c.*1294A>G rs534017480 0.00050
NM_012073.5(CCT5):c.*1603G>A rs150385942 0.00049
NM_012073.4(CCT5):c.-125A>G rs552002776 0.00041
NM_012073.5(CCT5):c.*841T>C rs180679435 0.00040
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) rs141133834 0.00022
NM_012073.5(CCT5):c.*69C>T rs535827783 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_012073.5(CCT5):c.*1289T>C rs76573887 0.00018
NM_012073.5(CCT5):c.*1404T>G rs780281527 0.00014
NM_012073.5(CCT5):c.*1405T>C rs747318041 0.00014
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) rs138168151 0.00013
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) rs773314762 0.00010
NM_012073.5(CCT5):c.*1239C>G rs886059759 0.00008
NM_012073.5(CCT5):c.*205T>C rs533788803 0.00008
NM_012073.5(CCT5):c.*5A>C rs533404395 0.00008
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_012073.5(CCT5):c.-48C>T rs574425461 0.00007
NM_012073.5(CCT5):c.*1257A>G rs572016113 0.00006
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006
NM_012073.5(CCT5):c.531-13G>T rs370943521 0.00005
NM_012073.5(CCT5):c.*1126T>A rs375626550 0.00004
NM_012073.5(CCT5):c.*1401G>A rs188649700 0.00004
NM_012073.5(CCT5):c.*347T>C rs774174590 0.00004
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012073.5(CCT5):c.1283C>G (p.Ser428Cys) rs201280643 0.00004
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) rs148752621 0.00004
NM_012073.5(CCT5):c.*345T>C rs886059757 0.00003
NM_012073.5(CCT5):c.*420T>C rs755661384 0.00003
NM_012073.5(CCT5):c.648C>G (p.Gly216=) rs754143874 0.00003
NM_012073.5(CCT5):c.*566C>T rs377154717 0.00002
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) rs1355138785 0.00002
NM_012073.5(CCT5):c.*1382C>T rs1222254097 0.00001
NM_012073.5(CCT5):c.*176G>C rs547909747 0.00001
NM_012073.5(CCT5):c.*25A>G rs886059755 0.00001
NM_012073.5(CCT5):c.*756C>G rs1437353746 0.00001
NM_012073.5(CCT5):c.*775C>G rs533967918 0.00001
NM_012073.5(CCT5):c.-56C>T rs770097768 0.00001
NM_012073.5(CCT5):c.-59A>G rs748544536 0.00001
NM_012073.5(CCT5):c.112A>G (p.Ile38Val) rs1191228356 0.00001
NM_012073.5(CCT5):c.1270G>T (p.Ala424Ser) rs767982457 0.00001
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) rs762423535 0.00001
NM_012073.5(CCT5):c.1615T>C (p.Ser539Pro) rs779415398 0.00001
NM_012073.5(CCT5):c.531-10T>G rs761866534 0.00001
NM_012073.5(CCT5):c.677A>G (p.Lys226Arg) rs768757632 0.00001
NM_012073.4(CCT5):c.-112G>A rs745933943
NM_012073.5(CCT5):c.*1174C>A rs1746211625
NM_012073.5(CCT5):c.*1427G>A rs191751648
NM_012073.5(CCT5):c.*1483G>A rs1746230429
NM_012073.5(CCT5):c.*161C>T rs1746148378
NM_012073.5(CCT5):c.*386T>C rs533551114
NM_012073.5(CCT5):c.*513G>C rs72738997
NM_012073.5(CCT5):c.*749A>G rs1746183602
NM_012073.5(CCT5):c.*797G>A rs1746187490
NM_012073.5(CCT5):c.*889C>A rs1746194445
NM_012073.5(CCT5):c.1120A>G (p.Ile374Val) rs1745970022
NM_012073.5(CCT5):c.1183A>G (p.Ile395Val) rs781378409
NM_012073.5(CCT5):c.1216T>G (p.Leu406Val) rs746067421
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.918T>C (p.Phe306=) rs1745924206
NM_012073.5(CCT5):c.968G>A (p.Arg323His) rs1745927457
NM_012073.5(CCT5):c.994-13C>T rs1745959498

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