ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) rs145615218 0.00017
NM_003172.4(SURF1):c.751+4C>T rs782184113 0.00015
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) rs587727919 0.00009
NM_003172.4(SURF1):c.720C>T (p.Gly240=) rs200407815 0.00008
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) rs201822068 0.00008
NM_003172.4(SURF1):c.240+5A>T rs370901434 0.00006
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) rs201492662 0.00006
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) rs863224226 0.00005
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) rs151258319 0.00005
NM_003172.4(SURF1):c.342T>A (p.Asn114Lys) rs146580899 0.00004
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) rs782358655 0.00004
NM_003172.4(SURF1):c.591T>A (p.Ile197=) rs373355971 0.00004
NM_003172.4(SURF1):c.10G>A (p.Val4Met) rs1169550986 0.00003
NM_003172.4(SURF1):c.328A>G (p.Met110Val) rs782754332 0.00003
NM_003172.4(SURF1):c.514G>A (p.Gly172Arg) rs1396233239 0.00003
NM_003172.4(SURF1):c.721G>A (p.Ala241Thr) rs782157083 0.00003
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) rs782480169 0.00003
NM_003172.4(SURF1):c.752-4dup rs1159512660 0.00003
NM_003172.4(SURF1):c.826G>A (p.Val276Met) rs141561701 0.00003
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) rs373551988 0.00002
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) rs147165855 0.00002
NM_003172.4(SURF1):c.897del (p.Val300fs) rs782010013 0.00002
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) rs781831910 0.00001
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) rs782125974 0.00001
NM_003172.4(SURF1):c.248G>A (p.Arg83His) rs1370356387 0.00001
NM_003172.4(SURF1):c.251G>A (p.Arg84Gln) rs782044026 0.00001
NM_003172.4(SURF1):c.335T>C (p.Leu112Pro) rs782811025 0.00001
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr) rs863224224 0.00001
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro) rs1227317118 0.00001
NM_003172.4(SURF1):c.448G>A (p.Gly150Ser) rs1371101979 0.00001
NM_003172.4(SURF1):c.461C>T (p.Ser154Phe) rs1392714895 0.00001
NM_003172.4(SURF1):c.491C>T (p.Thr164Ile) rs782214884 0.00001
NM_003172.4(SURF1):c.544G>A (p.Val182Ile) rs782638354 0.00001
NM_003172.4(SURF1):c.56C>T (p.Ala19Val) rs980771108 0.00001
NM_003172.4(SURF1):c.649G>A (p.Val217Ile) rs1836454464 0.00001
NM_003172.4(SURF1):c.751+5G>A rs781934508 0.00001
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) rs781880723 0.00001
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) rs781924765 0.00001
NM_003172.4(SURF1):c.81C>A (p.Ser27Arg) rs1416119624 0.00001
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) rs587758543 0.00001
NM_003172.4(SURF1):c.865T>G (p.Trp289Gly) rs373591762 0.00001
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro) rs782620122 0.00001
NC_000009.11:g.(?_135139626)_(140034216_?)dup
NC_000009.11:g.(?_136223104)_(136223329_?)dup
NM_003172.4(SURF1):c.106+6G>A
NM_003172.4(SURF1):c.107-7T>G
NM_003172.4(SURF1):c.161C>G (p.Thr54Arg) rs781958165
NM_003172.4(SURF1):c.163A>G (p.Lys55Glu) rs2119085332
NM_003172.4(SURF1):c.16G>T (p.Ala6Ser) rs2119089250
NM_003172.4(SURF1):c.179C>G (p.Ser60Cys)
NM_003172.4(SURF1):c.190T>C (p.Trp64Arg)
NM_003172.4(SURF1):c.1_9dup (p.Met1_Ala3dup) rs1477692276
NM_003172.4(SURF1):c.200T>C (p.Leu67Pro)
NM_003172.4(SURF1):c.202C>T (p.Leu68Phe)
NM_003172.4(SURF1):c.208C>T (p.Pro70Ser)
NM_003172.4(SURF1):c.212T>C (p.Val71Ala)
NM_003172.4(SURF1):c.226T>G (p.Leu76Val)
NM_003172.4(SURF1):c.233C>T (p.Thr78Ile)
NM_003172.4(SURF1):c.241-16T>A rs146939127
NM_003172.4(SURF1):c.245A>T (p.Gln82Leu)
NM_003172.4(SURF1):c.247C>T (p.Arg83Cys)
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) rs782044026
NM_003172.4(SURF1):c.260A>G (p.Lys87Arg)
NM_003172.4(SURF1):c.28G>A (p.Gly10Arg)
NM_003172.4(SURF1):c.295C>G (p.Leu99Val)
NM_003172.4(SURF1):c.304C>G (p.Pro102Ala)
NM_003172.4(SURF1):c.324-10_324-9insAGA rs1299986010
NM_003172.4(SURF1):c.324-3C>G rs2119083618
NM_003172.4(SURF1):c.329T>C (p.Met110Thr) rs1189141759
NM_003172.4(SURF1):c.32T>C (p.Leu11Pro) rs1773521003
NM_003172.4(SURF1):c.32T>G (p.Leu11Arg) rs1773521003
NM_003172.4(SURF1):c.338A>G (p.Lys113Arg) rs2119083584
NM_003172.4(SURF1):c.347A>G (p.Glu116Gly) rs1018457058
NM_003172.4(SURF1):c.352A>G (p.Arg118Gly)
NM_003172.4(SURF1):c.35G>T (p.Arg12Leu)
NM_003172.4(SURF1):c.363G>C (p.Lys121Asn)
NM_003172.4(SURF1):c.369G>C (p.Arg123Ser)
NM_003172.4(SURF1):c.380A>C (p.Asp127Ala) rs782197597
NM_003172.4(SURF1):c.398A>G (p.Tyr133Cys)
NM_003172.4(SURF1):c.400A>T (p.Met134Leu) rs2119083514
NM_003172.4(SURF1):c.406C>T (p.Pro136Ser)
NM_003172.4(SURF1):c.407C>T (p.Pro136Leu)
NM_003172.4(SURF1):c.410G>A (p.Arg137Gln)
NM_003172.4(SURF1):c.416T>C (p.Met139Thr)
NM_003172.4(SURF1):c.427G>A (p.Val143Ile)
NM_003172.4(SURF1):c.430C>T (p.Arg144Trp)
NM_003172.4(SURF1):c.431G>A (p.Arg144Gln)
NM_003172.4(SURF1):c.437_445del (p.Ala146_Glu148del) rs782387264
NM_003172.4(SURF1):c.440G>A (p.Arg147Gln)
NM_003172.4(SURF1):c.442G>A (p.Glu148Lys)
NM_003172.4(SURF1):c.456CTC[2] (p.Ser155del) rs782208909
NM_003172.4(SURF1):c.464C>T (p.Ser155Leu)
NM_003172.4(SURF1):c.482A>G (p.Tyr161Cys)
NM_003172.4(SURF1):c.487G>A (p.Val163Ile)
NM_003172.4(SURF1):c.491C>G (p.Thr164Ser)
NM_003172.4(SURF1):c.500A>G (p.His167Arg) rs373251271
NM_003172.4(SURF1):c.510C>A (p.Asp170Glu)
NM_003172.4(SURF1):c.510C>G (p.Asp170Glu) rs587683200
NM_003172.4(SURF1):c.512T>C (p.Leu171Pro) rs1836495532
NM_003172.4(SURF1):c.54+20_54+33del
NM_003172.4(SURF1):c.54+5_54+6delinsTT
NM_003172.4(SURF1):c.542T>A (p.Phe181Tyr) rs2119081467
NM_003172.4(SURF1):c.542T>G (p.Phe181Cys)
NM_003172.4(SURF1):c.547C>T (p.Pro183Ser) rs782765995
NM_003172.4(SURF1):c.55-5C>G
NM_003172.4(SURF1):c.55G>C (p.Ala19Pro) rs1836582383
NM_003172.4(SURF1):c.588G>A (p.Gln196=)
NM_003172.4(SURF1):c.596G>A (p.Gly199Glu) rs1836456450
NM_003172.4(SURF1):c.598G>C (p.Glu200Gln)
NM_003172.4(SURF1):c.59C>G (p.Pro20Arg)
NM_003172.4(SURF1):c.59C>T (p.Pro20Leu)
NM_003172.4(SURF1):c.607C>T (p.Leu203Phe)
NM_003172.4(SURF1):c.611T>G (p.Ile204Ser) rs1209784974
NM_003172.4(SURF1):c.638G>C (p.Arg213Thr)
NM_003172.4(SURF1):c.641_643del (p.Gln214del) rs2119081112
NM_003172.4(SURF1):c.643C>T (p.Pro215Ser)
NM_003172.4(SURF1):c.655G>C (p.Glu219Gln)
NM_003172.4(SURF1):c.657G>C (p.Glu219Asp)
NM_003172.4(SURF1):c.661A>G (p.Asn221Asp)
NM_003172.4(SURF1):c.665C>G (p.Pro222Arg)
NM_003172.4(SURF1):c.668A>G (p.Glu223Gly)
NM_003172.4(SURF1):c.679T>A (p.Trp227Arg) rs398122806
NM_003172.4(SURF1):c.692A>G (p.Asp231Gly)
NM_003172.4(SURF1):c.693C>G (p.Asp231Glu)
NM_003172.4(SURF1):c.700G>C (p.Ala234Pro)
NM_003172.4(SURF1):c.701C>G (p.Ala234Gly)
NM_003172.4(SURF1):c.703A>C (p.Met235Leu)
NM_003172.4(SURF1):c.703A>G (p.Met235Val) rs782437393
NM_003172.4(SURF1):c.707C>T (p.Ala236Val)
NM_003172.4(SURF1):c.713T>C (p.Ile238Thr) rs1318116962
NM_003172.4(SURF1):c.727C>A (p.Pro243Thr)
NM_003172.4(SURF1):c.728C>T (p.Pro243Leu)
NM_003172.4(SURF1):c.747C>A (p.Asn249Lys) rs1208965322
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu) rs782109120
NM_003172.4(SURF1):c.758C>G (p.Thr253Arg)
NM_003172.4(SURF1):c.75GAG[3] (p.Arg26_Ser27insArg)
NM_003172.4(SURF1):c.763C>T (p.Pro255Ser)
NM_003172.4(SURF1):c.764C>A (p.Pro255His)
NM_003172.4(SURF1):c.773C>G (p.Pro258Arg)
NM_003172.4(SURF1):c.775A>G (p.Ile259Val)
NM_003172.4(SURF1):c.776T>C (p.Ile259Thr)
NM_003172.4(SURF1):c.788C>G (p.Thr263Ser) rs2119080085
NM_003172.4(SURF1):c.796A>T (p.Thr266Ser)
NM_003172.4(SURF1):c.800T>C (p.Leu267Pro)
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003172.4(SURF1):c.815T>C (p.Leu272Pro)
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) rs1050473947
NM_003172.4(SURF1):c.823A>G (p.Ile275Val)
NM_003172.4(SURF1):c.823A>T (p.Ile275Phe) rs1050473947
NM_003172.4(SURF1):c.827T>C (p.Val276Ala)
NM_003172.4(SURF1):c.833+3G>A rs587699821
NM_003172.4(SURF1):c.836A>T (p.Tyr279Phe) rs587758543
NM_003172.4(SURF1):c.83T>C (p.Val28Ala)
NM_003172.4(SURF1):c.845C>G (p.Ser282Cys)
NM_003172.4(SURF1):c.847G>A (p.Ala283Thr) rs139025632
NM_003172.4(SURF1):c.850G>C (p.Ala284Pro)
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala) rs2119079774
NM_003172.4(SURF1):c.863T>A (p.Leu288Gln) rs200841752
NM_003172.4(SURF1):c.879C>G (p.Phe293Leu)
NM_003172.4(SURF1):c.884G>A (p.Arg295His)
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu) rs369247238
NM_003172.4(SURF1):c.898G>A (p.Val300Met) rs782746186
NM_003172.4(SURF1):c.8C>T (p.Ala3Val) rs966145163
NM_003172.4(SURF1):c.903A>G (p.Ter301Trp)
NM_003172.4(SURF1):c.903A>T (p.Ter301Cys)
NM_003172.4(SURF1):c.97C>G (p.Pro33Ala) rs1295640591
NM_003172.4(SURF1):c.98C>G (p.Pro33Arg)

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