ClinVar Miner

List of variants reported as uncertain significance for Hereditary sensory and autonomic neuropathy type IC by Invitae

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ClinVar version:
Total variants: 79
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HGVS dbSNP
NC_000014.8:g.(?_77743699)_(78082942_?)dup
NC_000014.8:g.(?_77978617)_(78082932_?)dup
NC_000014.8:g.(?_78045288)_(78045462_?)dup
NC_000014.9:g.(?_77512274)_(77579119_?)dup
NC_000014.9:g.(?_77616438)_(77616589_?)del
NM_004863.3(SPTLC2):c.1032T>G (p.Asp344Glu) rs1555375334
NM_004863.3(SPTLC2):c.1035G>A (p.Glu345=) rs1566778601
NM_004863.3(SPTLC2):c.1070G>A (p.Arg357Gln) rs375669404
NM_004863.3(SPTLC2):c.109G>T (p.Ala37Ser) rs1245435236
NM_004863.3(SPTLC2):c.1196G>A (p.Arg399Gln) rs143757018
NM_004863.3(SPTLC2):c.119_121CCG[5] (p.Ala41_Ala42dup) rs1555379635
NM_004863.3(SPTLC2):c.1226C>A (p.Thr409Lys) rs368357970
NM_004863.3(SPTLC2):c.122C>T (p.Ala41Val) rs1397356644
NM_004863.3(SPTLC2):c.1313G>A (p.Cys438Tyr) rs116342919
NM_004863.3(SPTLC2):c.132+5G>T rs1442394746
NM_004863.3(SPTLC2):c.135C>G (p.Ile45Met) rs1595013409
NM_004863.3(SPTLC2):c.1439+4C>T rs1035407081
NM_004863.3(SPTLC2):c.1450C>T (p.Arg484Trp) rs765520235
NM_004863.3(SPTLC2):c.1451G>A (p.Arg484Gln) rs755350573
NM_004863.3(SPTLC2):c.1481T>C (p.Val494Ala) rs1555372983
NM_004863.3(SPTLC2):c.1622G>A (p.Arg541His) rs375384785
NM_004863.3(SPTLC2):c.1628G>A (p.Arg543Gln) rs763898397
NM_004863.3(SPTLC2):c.163T>C (p.Tyr55His) rs1273884598
NM_004863.3(SPTLC2):c.166A>G (p.Lys56Glu) rs1251070277
NM_004863.3(SPTLC2):c.245C>T (p.Thr82Ile) rs1555378043
NM_004863.3(SPTLC2):c.255A>G (p.Gly85=) rs771876630
NM_004863.3(SPTLC2):c.263G>A (p.Arg88Gln) rs748168089
NM_004863.3(SPTLC2):c.301C>T (p.His101Tyr) rs1595013256
NM_004863.3(SPTLC2):c.327+5C>G rs1385358452
NM_004863.3(SPTLC2):c.350A>G (p.Asp117Gly) rs1595002005
NM_004863.3(SPTLC2):c.355G>A (p.Glu119Lys) rs1595002000
NM_004863.3(SPTLC2):c.398A>G (p.Asn133Ser) rs1555376645
NM_004863.3(SPTLC2):c.406C>T (p.Arg136Trp) rs116730455
NM_004863.3(SPTLC2):c.415T>C (p.Cys139Arg) rs150036058
NM_004863.3(SPTLC2):c.445A>G (p.Met149Val) rs1309964279
NM_004863.3(SPTLC2):c.44G>A (p.Arg15Gln) rs1164824967
NM_004863.3(SPTLC2):c.460C>A (p.His154Asn) rs1205341271
NM_004863.3(SPTLC2):c.496A>T (p.Ile166Leu) rs1355725205
NM_004863.3(SPTLC2):c.538G>C (p.Gly180Arg) rs1250368224
NM_004863.3(SPTLC2):c.565C>A (p.Gln189Lys) rs1216165779
NM_004863.3(SPTLC2):c.575C>T (p.Ala192Val) rs776071727
NM_004863.3(SPTLC2):c.620G>A (p.Arg207Gln) rs751801159
NM_004863.3(SPTLC2):c.648T>G (p.His216Gln) rs374561654
NM_004863.3(SPTLC2):c.701C>T (p.Ala234Val) rs761202531
NM_004863.3(SPTLC2):c.702_708del (p.Tyr235fs) rs1594996545
NM_004863.3(SPTLC2):c.70G>C (p.Glu24Gln) rs1555379648
NM_004863.3(SPTLC2):c.760T>C (p.Cys254Arg) rs767182140
NM_004863.3(SPTLC2):c.890T>C (p.Val297Ala) rs370170064
NM_004863.3(SPTLC2):c.905G>A (p.Arg302Gln) rs766660719
NM_004863.3(SPTLC2):c.911G>A (p.Arg304Gln) rs761038205
NM_004863.3(SPTLC2):c.977G>A (p.Arg326His) rs116822112
NM_004863.3(SPTLC2):c.994G>T (p.Ala332Ser) rs767978353
NM_004863.3(SPTLC2):c.99C>A (p.Ser33Arg) rs763621248
NM_004863.4(SPTLC2):c.105AGCCGC[4] (p.Ala41_Ala42dup) rs577436926
NM_004863.4(SPTLC2):c.1118T>C (p.Met373Thr)
NM_004863.4(SPTLC2):c.1144G>C (p.Gly382Arg)
NM_004863.4(SPTLC2):c.116_127del (p.Ala39_Ala42del)
NM_004863.4(SPTLC2):c.1213G>A (p.Ala405Thr)
NM_004863.4(SPTLC2):c.1217T>C (p.Val406Ala)
NM_004863.4(SPTLC2):c.1288G>C (p.Asp430His)
NM_004863.4(SPTLC2):c.13C>T (p.Pro5Ser)
NM_004863.4(SPTLC2):c.1439+5G>A
NM_004863.4(SPTLC2):c.1511T>C (p.Ile504Thr)
NM_004863.4(SPTLC2):c.187T>C (p.Phe63Leu)
NM_004863.4(SPTLC2):c.238G>A (p.Val80Ile)
NM_004863.4(SPTLC2):c.248T>G (p.Leu83Arg)
NM_004863.4(SPTLC2):c.35G>C (p.Arg12Pro)
NM_004863.4(SPTLC2):c.418A>G (p.Ser140Gly)
NM_004863.4(SPTLC2):c.430G>A (p.Ala144Thr)
NM_004863.4(SPTLC2):c.455A>G (p.Gln152Arg)
NM_004863.4(SPTLC2):c.533A>G (p.Tyr178Cys)
NM_004863.4(SPTLC2):c.610T>G (p.Cys204Gly)
NM_004863.4(SPTLC2):c.736A>G (p.Ile246Val)
NM_004863.4(SPTLC2):c.737T>C (p.Ile246Thr)
NM_004863.4(SPTLC2):c.756+6A>G
NM_004863.4(SPTLC2):c.778G>A (p.Glu260Lys)
NM_004863.4(SPTLC2):c.842A>G (p.Lys281Arg)
NM_004863.4(SPTLC2):c.865G>C (p.Glu289Gln)
NM_004863.4(SPTLC2):c.934A>G (p.Ile312Val)

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