ClinVar Miner

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

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Total variants: 86
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HGVS dbSNP gnomAD frequency
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.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.424C>T (p.Arg142Cys) rs572671693 0.00008
NM_012073.5(CCT5):c.1051G>A (p.Glu351Lys) rs140095139 0.00006
NM_012073.5(CCT5):c.748A>G (p.Ile250Val) rs200819422 0.00005
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.878A>T (p.Lys293Ile) rs148752621 0.00004
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.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.87G>A (p.Met29Ile) rs1355138785 0.00002
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.1229G>A (p.Arg410Gln) rs771944850 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.1443G>C (p.Gln481His) rs766425367 0.00001
NM_012073.5(CCT5):c.1549A>G (p.Ile517Val) rs752461300 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
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.1078C>A (p.Gln360Lys) rs368250896
NM_012073.5(CCT5):c.1153A>G (p.Ile385Val)
NM_012073.5(CCT5):c.1199G>A (p.Arg400Gln)
NM_012073.5(CCT5):c.1217T>C (p.Leu406Ser)
NM_012073.5(CCT5):c.1250G>A (p.Arg417His) rs761273276
NM_012073.5(CCT5):c.1317+3A>G
NM_012073.5(CCT5):c.1322C>A (p.Pro441His)
NM_012073.5(CCT5):c.1336T>C (p.Tyr446His) rs1554011822
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.1474G>A (p.Asp492Asn) rs749250007
NM_012073.5(CCT5):c.1474G>C (p.Asp492His) rs749250007
NM_012073.5(CCT5):c.1498+3G>A
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.1623dup (p.Ter542MetextTer?)
NM_012073.5(CCT5):c.167-13C>G
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.33A>G (p.Glu11=)
NM_012073.5(CCT5):c.382A>G (p.Ile128Val)
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.480G>C (p.Lys160Asn)
NM_012073.5(CCT5):c.544C>T (p.His182Tyr)
NM_012073.5(CCT5):c.568G>A (p.Val190Met)
NM_012073.5(CCT5):c.57C>G (p.Ile19Met)
NM_012073.5(CCT5):c.602G>A (p.Arg201Gln) rs1579451817
NM_012073.5(CCT5):c.694A>G (p.Lys232Glu)
NM_012073.5(CCT5):c.700T>A (p.Phe234Ile)
NM_012073.5(CCT5):c.703A>G (p.Ser235Gly)
NM_012073.5(CCT5):c.737C>T (p.Ala246Val)
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.898G>A (p.Ala300Thr)
NM_012073.5(CCT5):c.994-17C>G

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