ClinVar Miner

List of variants studied for Hereditary sensory and autonomic neuropathy with spastic paraplegia by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
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.738G>A (p.Ala246=) rs11557649 0.03346
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01963
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
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.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_012073.5(CCT5):c.1350G>A (p.Ala450=) rs142127415 0.00195
NM_012073.5(CCT5):c.874-16G>T rs80019852 0.00089
NM_012073.5(CCT5):c.166+8del rs773556943 0.00069
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_012073.5(CCT5):c.440A>G (p.His147Arg) rs118203986 0.00040
NM_012073.5(CCT5):c.895C>G (p.Leu299Val) rs141509761 0.00036
NM_012073.5(CCT5):c.86T>C (p.Met29Thr) rs141133834 0.00022
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_012073.5(CCT5):c.1161T>C (p.Ile387=) rs377234917 0.00014
NM_012073.5(CCT5):c.1519A>G (p.Ile507Val) rs138168151 0.00013
NM_012073.5(CCT5):c.531-3C>T rs555534209 0.00011
NM_012073.5(CCT5):c.1132A>G (p.Lys378Glu) rs773314762 0.00010
NM_012073.5(CCT5):c.753C>T (p.Leu251=) rs755384536 0.00009
NM_012073.5(CCT5):c.1180-4T>C rs751954199 0.00008
NM_012073.5(CCT5):c.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) rs140095139 0.00006
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) rs200819422 0.00005
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012073.5(CCT5):c.122C>G (p.Ala41Gly) rs1337016126 0.00004
NM_012073.5(CCT5):c.1310C>T (p.Ala437Val) rs149067488 0.00004
NM_012073.5(CCT5):c.332-17T>C rs372131014 0.00004
NM_012073.5(CCT5):c.759T>C (p.Cys253=) rs542323956 0.00004
NM_012073.5(CCT5):c.878A>T (p.Lys293Ile) rs148752621 0.00004
NM_012073.5(CCT5):c.106-6C>T rs201641048 0.00003
NM_012073.5(CCT5):c.1072C>T (p.Leu358Phe) rs777440322 0.00003
NM_012073.5(CCT5):c.1324A>G (p.Thr442Ala) rs759193876 0.00003
NM_012073.5(CCT5):c.1499-14C>A rs772511157 0.00003
NM_012073.5(CCT5):c.1499-20A>G rs746431065 0.00003
NM_012073.5(CCT5):c.36T>C (p.Tyr12=) rs111848991 0.00003
NM_012073.5(CCT5):c.1050C>T (p.Ala350=) rs751586130 0.00002
NM_012073.5(CCT5):c.1199G>T (p.Arg400Leu) rs749310473 0.00002
NM_012073.5(CCT5):c.1316A>C (p.Lys439Thr) rs768671276 0.00002
NM_012073.5(CCT5):c.1378A>G (p.Met460Val) rs780975626 0.00002
NM_012073.5(CCT5):c.1379T>C (p.Met460Thr) rs376067681 0.00002
NM_012073.5(CCT5):c.1391A>G (p.Glu464Gly) rs770386557 0.00002
NM_012073.5(CCT5):c.487G>A (p.Glu163Lys) rs552008894 0.00002
NM_012073.5(CCT5):c.648C>T (p.Gly216=) rs754143874 0.00002
NM_012073.5(CCT5):c.651C>A (p.Gly217=) rs145578766 0.00002
NM_012073.5(CCT5):c.87G>A (p.Met29Ile) rs1355138785 0.00002
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) rs1282889055 0.00001
NM_012073.5(CCT5):c.106-10G>C rs1468015293 0.00001
NM_012073.5(CCT5):c.10A>G (p.Met4Val) rs1281493996 0.00001
NM_012073.5(CCT5):c.1123G>A (p.Glu375Lys) rs139449863 0.00001
NM_012073.5(CCT5):c.1206T>C (p.Leu402=) rs943286316 0.00001
NM_012073.5(CCT5):c.1209C>T (p.His403=) rs771307325 0.00001
NM_012073.5(CCT5):c.1229G>A (p.Arg410Gln) rs771944850 0.00001
NM_012073.5(CCT5):c.1308G>A (p.Glu436=) rs772175136 0.00001
NM_012073.5(CCT5):c.1311G>A (p.Ala437=) rs746715722 0.00001
NM_012073.5(CCT5):c.1318-4C>T rs1404507806 0.00001
NM_012073.5(CCT5):c.1346G>A (p.Arg449Lys) rs762423535 0.00001
NM_012073.5(CCT5):c.1357G>A (p.Asp453Asn) rs766463234 0.00001
NM_012073.5(CCT5):c.1359C>T (p.Asp453=) rs751771583 0.00001
NM_012073.5(CCT5):c.1443G>C (p.Gln481His) rs766425367 0.00001
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val) rs752461300 0.00001
NM_012073.5(CCT5):c.222G>A (p.Gly74=) rs1234851468 0.00001
NM_012073.5(CCT5):c.377G>A (p.Arg126Gln) rs369788570 0.00001
NM_012073.5(CCT5):c.548G>A (p.Arg183Gln) rs772711272 0.00001
NM_012073.5(CCT5):c.577G>A (p.Val193Ile) rs978444316 0.00001
NM_012073.5(CCT5):c.610G>A (p.Val204Ile) rs1266138297 0.00001
NM_012073.5(CCT5):c.649G>A (p.Gly217Ser) rs201804455 0.00001
NM_012073.5(CCT5):c.724-6C>T rs781230840 0.00001
NM_012073.5(CCT5):c.840C>T (p.Tyr280=) rs978388396 0.00001
NM_012073.5(CCT5):c.993+14C>T rs1170598436 0.00001
NC_000005.9:g.(?_10250453)_(10264895_?)del
NC_000005.9:g.(?_10250453)_(10264895_?)dup
NC_000005.9:g.(?_10264748)_(10264895_?)dup
NM_012073.5(CCT5):c.1006G>A (p.Ala336Thr)
NM_012073.5(CCT5):c.1009A>G (p.Thr337Ala)
NM_012073.5(CCT5):c.1024G>A (p.Val342Ile)
NM_012073.5(CCT5):c.1041G>A (p.Glu347=) rs2126514873
NM_012073.5(CCT5):c.1044C>T (p.Leu348=) rs1554011541
NM_012073.5(CCT5):c.106-12T>G
NM_012073.5(CCT5):c.1065T>C (p.Phe355=)
NM_012073.5(CCT5):c.1078C>A (p.Gln360Lys) rs368250896
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
NM_012073.5(CCT5):c.1179+12A>G
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)
NM_012073.5(CCT5):c.1236C>T (p.Leu412=)
NM_012073.5(CCT5):c.1248T>C (p.Asn416=)
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) rs761273276
NM_012073.5(CCT5):c.1290C>T (p.Ala430=)
NM_012073.5(CCT5):c.1291C>T (p.Leu431=)
NM_012073.5(CCT5):c.1317+14G>A
NM_012073.5(CCT5):c.1317+3A>G
NM_012073.5(CCT5):c.1318-8C>A
NM_012073.5(CCT5):c.1318-8C>T rs927002228
NM_012073.5(CCT5):c.1322C>A (p.Pro441His)
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) rs1554011822
NM_012073.5(CCT5):c.1356C>T (p.Ala452=)
NM_012073.5(CCT5):c.1384C>T (p.Leu462Phe)
NM_012073.5(CCT5):c.139A>G (p.Thr47Ala)
NM_012073.5(CCT5):c.13G>A (p.Gly5Arg)
NM_012073.5(CCT5):c.1433G>A (p.Arg478Gln) rs1746055933
NM_012073.5(CCT5):c.1449G>A (p.Lys483=)
NM_012073.5(CCT5):c.1474G>A (p.Asp492Asn) rs749250007
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.1498+15C>T
NM_012073.5(CCT5):c.1498+16G>A
NM_012073.5(CCT5):c.1498+3G>A
NM_012073.5(CCT5):c.1498+9C>T
NM_012073.5(CCT5):c.1499-10T>G rs903114794
NM_012073.5(CCT5):c.1564C>G (p.Gln522Glu)
NM_012073.5(CCT5):c.1571T>C (p.Val524Ala)
NM_012073.5(CCT5):c.1623A>G (p.Glu541=) rs758936847
NM_012073.5(CCT5):c.1623dup (p.Ter542MetextTer?)
NM_012073.5(CCT5):c.166+14A>G
NM_012073.5(CCT5):c.166+18C>T
NM_012073.5(CCT5):c.166+19G>A
NM_012073.5(CCT5):c.166+7G>C rs1561044915
NM_012073.5(CCT5):c.167-13C>G
NM_012073.5(CCT5):c.167-13C>T
NM_012073.5(CCT5):c.167-16A>G
NM_012073.5(CCT5):c.18C>T (p.Thr6=)
NM_012073.5(CCT5):c.1A>G (p.Met1Val)
NM_012073.5(CCT5):c.1A>T (p.Met1Leu) rs765917279
NM_012073.5(CCT5):c.243G>T (p.Met81Ile)
NM_012073.5(CCT5):c.271A>G (p.Met91Val) rs1745593343
NM_012073.5(CCT5):c.288G>A (p.Lys96=)
NM_012073.5(CCT5):c.300T>C (p.Asp100=)
NM_012073.5(CCT5):c.318C>T (p.Thr106=) rs2126500116
NM_012073.5(CCT5):c.331+13A>G
NM_012073.5(CCT5):c.332-14T>C
NM_012073.5(CCT5):c.332-19_332-16del rs376551309
NM_012073.5(CCT5):c.334C>T (p.Leu112=)
NM_012073.5(CCT5):c.33A>G (p.Glu11=)
NM_012073.5(CCT5):c.360G>A (p.Ala120=)
NM_012073.5(CCT5):c.382A>G (p.Ile128Val)
NM_012073.5(CCT5):c.402C>T (p.Ala134=)
NM_012073.5(CCT5):c.40C>T (p.Arg14Cys)
NM_012073.5(CCT5):c.426_427inv (p.Val143Ile)
NM_012073.5(CCT5):c.433A>G (p.Ile145Val)
NM_012073.5(CCT5):c.469G>T (p.Val157Phe)
NM_012073.5(CCT5):c.472G>A (p.Asp158Asn)
NM_012073.5(CCT5):c.476T>A (p.Ile159Lys)
NM_012073.5(CCT5):c.480G>C (p.Lys160Asn)
NM_012073.5(CCT5):c.48C>T (p.Phe16=)
NM_012073.5(CCT5):c.516G>A (p.Thr172=)
NM_012073.5(CCT5):c.544C>T (p.His182Tyr)
NM_012073.5(CCT5):c.568G>A (p.Val190Met)
NM_012073.5(CCT5):c.570G>C (p.Val190=)
NM_012073.5(CCT5):c.57C>G (p.Ile19Met)
NM_012073.5(CCT5):c.602G>A (p.Arg201Gln) rs1579451817
NM_012073.5(CCT5):c.609C>T (p.Asp203=)
NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)
NM_012073.5(CCT5):c.6G>A (p.Ala2=)
NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)
NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)
NM_012073.5(CCT5):c.723+10T>C rs754237380
NM_012073.5(CCT5):c.724-9C>T
NM_012073.5(CCT5):c.737C>T (p.Ala246Val)
NM_012073.5(CCT5):c.738G>C (p.Ala246=) rs11557649
NM_012073.5(CCT5):c.744T>G (p.Ile248Met)
NM_012073.5(CCT5):c.761C>T (p.Pro254Leu)
NM_012073.5(CCT5):c.769C>A (p.Pro257Thr)
NM_012073.5(CCT5):c.814G>A (p.Glu272Lys)
NM_012073.5(CCT5):c.85A>C (p.Met29Leu) rs773861292
NM_012073.5(CCT5):c.873+11C>G
NM_012073.5(CCT5):c.898G>A (p.Ala300Thr)
NM_012073.5(CCT5):c.924T>C (p.Asp308=)
NM_012073.5(CCT5):c.942T>A (p.Leu314=)
NM_012073.5(CCT5):c.993+10T>A rs2126513359
NM_012073.5(CCT5):c.993+15G>A
NM_012073.5(CCT5):c.994-17C>G
NM_012073.5(CCT5):c.994-5A>C
NM_012073.5(CCT5):c.99C>G (p.Ala33=)

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