ClinVar Miner

List of variants reported as likely benign for Neuropathy, hereditary sensory and autonomic, type 1C by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_004863.4(SPTLC2):c.1239T>C (p.Pro413=) rs140041902 0.00055
NM_004863.4(SPTLC2):c.432C>T (p.Ala144=) rs139381733 0.00036
NM_004863.4(SPTLC2):c.561A>G (p.Ser187=) rs143934634 0.00029
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00023
NM_004863.4(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503 0.00022
NM_004863.4(SPTLC2):c.761G>C (p.Cys254Ser) rs572378641 0.00014
NM_004863.4(SPTLC2):c.1050C>T (p.Gly350=) rs539265514 0.00013
NM_004863.4(SPTLC2):c.1569+16C>T rs756795773 0.00013
NM_004863.4(SPTLC2):c.1017A>G (p.Ala339=) rs149375041 0.00012
NM_004863.4(SPTLC2):c.328-17T>C rs200794836 0.00010
NM_004863.4(SPTLC2):c.763C>T (p.Leu255=) rs773905221 0.00010
NM_004863.4(SPTLC2):c.1065A>T (p.Thr355=) rs138865310 0.00008
NM_004863.4(SPTLC2):c.1304-5T>G rs763217879 0.00007
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala) rs1024879456 0.00006
NM_004863.4(SPTLC2):c.414C>T (p.Ile138=) rs1364157223 0.00005
NM_004863.4(SPTLC2):c.1470C>T (p.Asn490=) rs374657234 0.00004
NM_004863.4(SPTLC2):c.1668G>A (p.Thr556=) rs370209646 0.00004
NM_004863.4(SPTLC2):c.237C>T (p.Gly79=) rs560785142 0.00004
NM_004863.4(SPTLC2):c.702G>A (p.Ala234=) rs372032405 0.00004
NM_004863.4(SPTLC2):c.996C>T (p.Ala332=) rs757660579 0.00004
NM_004863.4(SPTLC2):c.1062C>A (p.Pro354=) rs764116609 0.00003
NM_004863.4(SPTLC2):c.222G>A (p.Thr74=) rs763582332 0.00003
NM_004863.4(SPTLC2):c.73G>C (p.Val25Leu) rs1017782894 0.00003
NM_004863.4(SPTLC2):c.1101C>T (p.Pro367=) rs765457530 0.00002
NM_004863.4(SPTLC2):c.1304-12G>A rs1230441889 0.00002
NM_004863.4(SPTLC2):c.1304-13C>T rs368131672 0.00002
NM_004863.4(SPTLC2):c.1473C>T (p.Ile491=) rs374308415 0.00002
NM_004863.4(SPTLC2):c.255A>T (p.Gly85=) rs771876630 0.00002
NM_004863.4(SPTLC2):c.264A>C (p.Arg88=) rs778242101 0.00002
NM_004863.4(SPTLC2):c.483-11T>C rs370471503 0.00002
NM_004863.4(SPTLC2):c.747T>C (p.Leu249=) rs148535125 0.00002
NM_004863.4(SPTLC2):c.876G>A (p.Leu292=) rs2503489706 0.00002
NM_004863.4(SPTLC2):c.1059C>T (p.Gly353=) rs747649289 0.00001
NM_004863.4(SPTLC2):c.1080G>A (p.Val360=) rs764651221 0.00001
NM_004863.4(SPTLC2):c.1176+20G>A rs1388294034 0.00001
NM_004863.4(SPTLC2):c.1303+9T>G rs757545220 0.00001
NM_004863.4(SPTLC2):c.132+9G>A rs752336783 0.00001
NM_004863.4(SPTLC2):c.1320A>G (p.Gln440=) rs377233305 0.00001
NM_004863.4(SPTLC2):c.133-13A>G rs762952400 0.00001
NM_004863.4(SPTLC2):c.1362A>G (p.Lys454=) rs2079384782 0.00001
NM_004863.4(SPTLC2):c.1377C>A (p.Ile459=) rs772404684 0.00001
NM_004863.4(SPTLC2):c.1440-10C>T rs756191309 0.00001
NM_004863.4(SPTLC2):c.1440-5T>G rs556451968 0.00001
NM_004863.4(SPTLC2):c.1479C>T (p.Val493=) rs373444606 0.00001
NM_004863.4(SPTLC2):c.1530T>C (p.Phe510=) rs969206442 0.00001
NM_004863.4(SPTLC2):c.1569+8G>A rs577069180 0.00001
NM_004863.4(SPTLC2):c.1620C>G (p.Ser540=) rs140186345 0.00001
NM_004863.4(SPTLC2):c.1659C>T (p.Asp553=) rs757746741 0.00001
NM_004863.4(SPTLC2):c.231G>A (p.Gly77=) rs1183868978 0.00001
NM_004863.4(SPTLC2):c.273G>A (p.Leu91=) rs145489962 0.00001
NM_004863.4(SPTLC2):c.300C>T (p.His100=) rs751864113 0.00001
NM_004863.4(SPTLC2):c.318A>G (p.Glu106=) rs753268831 0.00001
NM_004863.4(SPTLC2):c.366T>C (p.Tyr122=) rs765827366 0.00001
NM_004863.4(SPTLC2):c.546A>G (p.Ala182=) rs1158103098 0.00001
NM_004863.4(SPTLC2):c.548G>A (p.Arg183Gln) rs368865952 0.00001
NM_004863.4(SPTLC2):c.609G>A (p.Val203=) rs375745552 0.00001
NM_004863.4(SPTLC2):c.619C>A (p.Arg207=) rs146066422 0.00001
NM_004863.4(SPTLC2):c.663G>A (p.Glu221=) rs773007136 0.00001
NM_004863.4(SPTLC2):c.756+17T>G rs1057521628 0.00001
NM_004863.4(SPTLC2):c.756+8dup rs769443222 0.00001
NM_004863.4(SPTLC2):c.819A>G (p.Ser273=) rs747565334 0.00001
NM_004863.4(SPTLC2):c.81C>T (p.Asn27=) rs751595983 0.00001
NM_004863.4(SPTLC2):c.837C>T (p.Ile279=) rs1197653153 0.00001
NM_004863.4(SPTLC2):c.874T>C (p.Leu292=) rs996569306 0.00001
NM_004863.4(SPTLC2):c.900G>A (p.Gln300=) rs571524943 0.00001
NM_004863.4(SPTLC2):c.956+10C>G rs767903051 0.00001
NM_004863.4(SPTLC2):c.957-7T>C rs1257987991 0.00001
NM_004863.4(SPTLC2):c.1035G>A (p.Glu345=) rs1566778601
NM_004863.4(SPTLC2):c.1071G>C (p.Arg357=) rs2079577433
NM_004863.4(SPTLC2):c.1101C>G (p.Pro367=) rs765457530
NM_004863.4(SPTLC2):c.1143T>C (p.Phe381=) rs2140020443
NM_004863.4(SPTLC2):c.1158A>T (p.Gly386=)
NM_004863.4(SPTLC2):c.1176+14G>A rs2503486336
NM_004863.4(SPTLC2):c.1176+9G>C rs1262128390
NM_004863.4(SPTLC2):c.1177-14T>C rs2140017795
NM_004863.4(SPTLC2):c.1245A>G (p.Val415=)
NM_004863.4(SPTLC2):c.1247T>C (p.Val416Ala) rs577862696
NM_004863.4(SPTLC2):c.126C>T (p.Ala42=) rs2140071567
NM_004863.4(SPTLC2):c.1284G>A (p.Gly428=) rs756155597
NM_004863.4(SPTLC2):c.1303+10dup rs2140017607
NM_004863.4(SPTLC2):c.1304-10G>A
NM_004863.4(SPTLC2):c.1304-20C>T
NM_004863.4(SPTLC2):c.1304-4C>T rs1555373207
NM_004863.4(SPTLC2):c.1304-5dup rs2503446364
NM_004863.4(SPTLC2):c.132+10del rs1012404041
NM_004863.4(SPTLC2):c.132+12C>T
NM_004863.4(SPTLC2):c.1332A>G (p.Glu444=)
NM_004863.4(SPTLC2):c.1341G>A (p.Arg447=) rs2079384827
NM_004863.4(SPTLC2):c.1407G>T (p.Val469=) rs1414279990
NM_004863.4(SPTLC2):c.1439+17A>G
NM_004863.4(SPTLC2):c.1440-16G>A
NM_004863.4(SPTLC2):c.1464G>A (p.Lys488=)
NM_004863.4(SPTLC2):c.1482T>C (p.Val494=)
NM_004863.4(SPTLC2):c.1534C>T (p.Leu512=) rs2503443231
NM_004863.4(SPTLC2):c.1542A>G (p.Ala514=) rs1018153034
NM_004863.4(SPTLC2):c.1569+8G>T rs577069180
NM_004863.4(SPTLC2):c.1570-19T>G rs2503437489
NM_004863.4(SPTLC2):c.162A>G (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.1653C>T (p.Pro551=)
NM_004863.4(SPTLC2):c.165T>C (p.Tyr55=) rs909194184
NM_004863.4(SPTLC2):c.1668G>C (p.Thr556=) rs370209646
NM_004863.4(SPTLC2):c.1686C>T (p.Asp562=)
NM_004863.4(SPTLC2):c.1688G>A (p.Ter563=)
NM_004863.4(SPTLC2):c.180T>C (p.Asn60=) rs769807904
NM_004863.4(SPTLC2):c.201A>G (p.Pro67=)
NM_004863.4(SPTLC2):c.219C>T (p.Leu73=) rs2503542292
NM_004863.4(SPTLC2):c.21C>T (p.Gly7=) rs1286923961
NM_004863.4(SPTLC2):c.252T>C (p.Phe84=) rs2503542181
NM_004863.4(SPTLC2):c.255A>G (p.Gly85=) rs771876630
NM_004863.4(SPTLC2):c.279T>C (p.Tyr93=) rs2140056169
NM_004863.4(SPTLC2):c.30C>T (p.Cys10=) rs1379343646
NM_004863.4(SPTLC2):c.327+10A>T rs1451522717
NM_004863.4(SPTLC2):c.327+7G>T rs2140056122
NM_004863.4(SPTLC2):c.328-13C>T rs2503518854
NM_004863.4(SPTLC2):c.333T>C (p.Phe111=)
NM_004863.4(SPTLC2):c.339A>C (p.Ser113=) rs952500033
NM_004863.4(SPTLC2):c.33C>T (p.Arg11=) rs2079969142
NM_004863.4(SPTLC2):c.378G>A (p.Leu126=)
NM_004863.4(SPTLC2):c.411A>C (p.Pro137=)
NM_004863.4(SPTLC2):c.420T>C (p.Ser140=)
NM_004863.4(SPTLC2):c.423G>C (p.Val141=)
NM_004863.4(SPTLC2):c.423G>T (p.Val141=) rs761678264
NM_004863.4(SPTLC2):c.435G>T (p.Arg145Ser) rs749262868
NM_004863.4(SPTLC2):c.438G>A (p.Val146=) rs975574041
NM_004863.4(SPTLC2):c.444C>T (p.Ile148=) rs369523661
NM_004863.4(SPTLC2):c.483-14C>T rs2503515828
NM_004863.4(SPTLC2):c.483-18T>C rs2503515832
NM_004863.4(SPTLC2):c.483-19T>G rs1358681102
NM_004863.4(SPTLC2):c.483-6G>T rs991080462
NM_004863.4(SPTLC2):c.483-7T>C rs2503515813
NM_004863.4(SPTLC2):c.486T>C (p.Tyr162=) rs2140039162
NM_004863.4(SPTLC2):c.525C>T (p.Ser175=) rs1202027028
NM_004863.4(SPTLC2):c.570A>G (p.Glu190=) rs2503515584
NM_004863.4(SPTLC2):c.576C>T (p.Ala192=)
NM_004863.4(SPTLC2):c.631+19T>G rs1420410648
NM_004863.4(SPTLC2):c.632-11T>G rs2079675696
NM_004863.4(SPTLC2):c.666T>G (p.Leu222=) rs185957601
NM_004863.4(SPTLC2):c.708C>T (p.Gly236=) rs2140034136
NM_004863.4(SPTLC2):c.73G>T (p.Val25Leu) rs1017782894
NM_004863.4(SPTLC2):c.757-10G>A
NM_004863.4(SPTLC2):c.757-14del rs776135010
NM_004863.4(SPTLC2):c.762C>T (p.Cys254=)
NM_004863.4(SPTLC2):c.78G>C (p.Arg26=) rs2079968625
NM_004863.4(SPTLC2):c.816G>C (p.Leu272=) rs1395196394
NM_004863.4(SPTLC2):c.841A>C (p.Lys281Gln) rs2140026532
NM_004863.4(SPTLC2):c.851-18C>A
NM_004863.4(SPTLC2):c.851-18C>G rs374768896
NM_004863.4(SPTLC2):c.851-6C>A rs1848321818
NM_004863.4(SPTLC2):c.851-9G>T rs2140022140
NM_004863.4(SPTLC2):c.871C>T (p.Leu291=) rs2140022094
NM_004863.4(SPTLC2):c.873A>G (p.Leu291=) rs2079588503
NM_004863.4(SPTLC2):c.906G>A (p.Arg302=)
NM_004863.4(SPTLC2):c.909A>C (p.Thr303=) rs1470294484
NM_004863.4(SPTLC2):c.915G>A (p.Arg305=) rs1167129943
NM_004863.4(SPTLC2):c.933C>T (p.Leu311=) rs2079588149
NM_004863.4(SPTLC2):c.957-18T>C rs757928927
NM_004863.4(SPTLC2):c.957-28AT[6] rs1046352769
NM_004863.4(SPTLC2):c.966A>C (p.Gly322=) rs2140020649
NM_004863.4(SPTLC2):c.981T>C (p.Leu327=) rs1305800586
NM_004863.4(SPTLC2):c.99C>T (p.Ser33=)

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