ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive metabolic cerebellar ataxia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000784.3(CYP27A1):c.-370T>C rs182545847 0.00800
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000784.3(CYP27A1):c.-205C>A rs187723732 0.00357
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_001386140.1(MTTP):c.*382T>C rs556994625 0.00210
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000784.3(CYP27A1):c.-335C>T rs528284503 0.00128
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_000370.3(TTPA):c.*776C>T rs886063063 0.00067
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_001386140.1(MTTP):c.502-12C>T rs200628118 0.00044
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=) rs145724674 0.00040
NM_001386140.1(MTTP):c.394-7C>T rs368989581 0.00039
NM_000370.3(TTPA):c.*806C>T rs752352118 0.00035
NM_000370.3(TTPA):c.*161A>G rs183885151 0.00034
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
NM_001386140.1(MTTP):c.-82C>T rs767201629 0.00029
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001386140.1(MTTP):c.-84T>C rs761717058 0.00025
NM_000370.3(TTPA):c.*326T>A rs529634119 0.00024
NM_000370.3(TTPA):c.*1365A>C rs181348477 0.00023
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176 0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509 0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884 0.00023
NM_000784.4(CYP27A1):c.*195G>C rs886055632 0.00022
NM_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_001386140.1(MTTP):c.*989T>C rs183510498 0.00021
NM_000370.3(TTPA):c.*364A>T rs559345463 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001386140.1(MTTP):c.799T>C (p.Leu267=) rs7672497 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_000370.3(TTPA):c.*554C>T rs576595274 0.00017
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_000370.3(TTPA):c.*735T>C rs886063064 0.00016
NM_000784.4(CYP27A1):c.1017+5G>A rs370304209 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022 0.00016
NM_001386140.1(MTTP):c.*436A>G rs1450371659 0.00014
NM_000370.3(TTPA):c.*1422T>G rs913423928 0.00012
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000370.3(TTPA):c.*1368C>G rs553853197 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_000370.3(TTPA):c.*934C>T rs776683493 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_001386140.1(MTTP):c.*1118C>T rs144013236 0.00006
NM_001386140.1(MTTP):c.1769+3A>G rs375993709 0.00006
NM_001386140.1(MTTP):c.393+11G>A rs367982075 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_000370.3(TTPA):c.*1716T>C rs1029598636 0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_000253.4(MTTP):c.-153C>G rs886058954 0.00004
NM_000370.3(TTPA):c.*1486C>T rs535310725 0.00004
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly) rs751549880 0.00004
NM_000370.3(TTPA):c.616G>A (p.Val206Ile) rs554118281 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001386140.1(MTTP):c.*826T>C rs960548926 0.00004
NM_001386140.1(MTTP):c.*98T>A rs886058961 0.00004
NM_001386140.1(MTTP):c.110C>T (p.Thr37Met) rs371307089 0.00004
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn) rs371023325 0.00004
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg) rs886058957 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_000370.3(TTPA):c.*239C>T rs761554482 0.00003
NM_000370.3(TTPA):c.-18G>A rs764083716 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834 0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly) rs72551318 0.00003
NM_000784.4(CYP27A1):c.859G>A (p.Asp287Asn) rs775027289 0.00003
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys) rs190012697 0.00003
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala) rs368679444 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_000370.3(TTPA):c.*1407G>A rs1805273393 0.00002
NM_000370.3(TTPA):c.*286C>G rs886063068 0.00002
NM_000370.3(TTPA):c.202C>A (p.Arg68=) rs973874631 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr) rs778424069 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001386140.1(MTTP):c.901T>C (p.Cys301Arg) rs759706918 0.00002
NM_000253.4(MTTP):c.-205G>A rs886058953 0.00001
NM_000370.3(TTPA):c.*1441C>G rs553317836 0.00001
NM_000370.3(TTPA):c.*292A>G rs886063067 0.00001
NM_000370.3(TTPA):c.*769G>A rs775461769 0.00001
NM_000370.3(TTPA):c.358+15A>G rs371592549 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_000370.3(TTPA):c.663+10A>G rs374903020 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000784.3(CYP27A1):c.-162C>T rs886055629 0.00001
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala) rs373870129 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_001386140.1(MTTP):c.*1018G>A rs1036088923 0.00001
NM_001386140.1(MTTP):c.*184G>A rs146172944 0.00001
NM_001386140.1(MTTP):c.*490_*494del rs886058963 0.00001
NM_001386140.1(MTTP):c.*668A>G rs1021704277 0.00001
NM_001386140.1(MTTP):c.-20G>A rs752823787 0.00001
NM_001386140.1(MTTP):c.-28T>C rs886058956 0.00001
NM_001386140.1(MTTP):c.-54C>T rs181769817 0.00001
NM_001386140.1(MTTP):c.1136T>C (p.Leu379Ser) rs138544271 0.00001
NM_001386140.1(MTTP):c.1477G>T (p.Ala493Ser) rs758939873 0.00001
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys) rs886058958 0.00001
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val) rs748108500 0.00001
NM_001386140.1(MTTP):c.756G>A (p.Ser252=) rs750749323 0.00001
NM_001386140.1(MTTP):c.791G>A (p.Gly264Asp) rs1428463955 0.00001
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000370.3(TTPA):c.*1135T>C rs886063062
NM_000370.3(TTPA):c.*1164A>T rs886063061
NM_000370.3(TTPA):c.*1176ATA[1] rs548084272
NM_000370.3(TTPA):c.*1247A>G rs1277245038
NM_000370.3(TTPA):c.*1394A>G rs886063060
NM_000370.3(TTPA):c.*1424C>T rs577649057
NM_000370.3(TTPA):c.*1469ATAA[3] rs773557348
NM_000370.3(TTPA):c.*1598C>T rs886063059
NM_000370.3(TTPA):c.*265T>C rs1805296752
NM_000370.3(TTPA):c.*452T>C rs886063066
NM_000370.3(TTPA):c.*496T>G rs565583075
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.144C>G (p.Thr48=) rs1805743504
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_000784.3(CYP27A1):c.-182C>T rs886055628
NM_000784.4(CYP27A1):c.*153G>C rs886055631
NM_000784.4(CYP27A1):c.*209G>A rs540140393
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met) rs76822427
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr) rs1943774432
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.344A>G (p.Glu115Gly) rs1943690611
NM_000784.4(CYP27A1):c.447-3C>T rs770217459
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs) rs758739930
NM_000784.4(CYP27A1):c.885C>T (p.Ala295=) rs1943740072
NM_001386140.1(MTTP):c.*1003T>C rs796899519
NM_001386140.1(MTTP):c.*1044G>T rs886058965
NM_001386140.1(MTTP):c.*219G>A rs1358012798
NM_001386140.1(MTTP):c.*41A>G rs886058959
NM_001386140.1(MTTP):c.*434G>A rs1358561776
NM_001386140.1(MTTP):c.*454dup rs545365701
NM_001386140.1(MTTP):c.*474T>C rs960894922
NM_001386140.1(MTTP):c.*517A>T rs886058964
NM_001386140.1(MTTP):c.*55G>C rs192882987
NM_001386140.1(MTTP):c.*82G>A rs886058960
NM_001386140.1(MTTP):c.1016C>T (p.Ala339Val) rs137956833
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu) rs72681995
NM_001386140.1(MTTP):c.1769+12T>C rs767162951
NM_001386140.1(MTTP):c.2195T>C (p.Ile732Thr) rs767606327
NM_001386140.1(MTTP):c.52T>A (p.Ser18Thr) rs1724921174
NM_001386140.1(MTTP):c.782C>G (p.Thr261Ser) rs1037319735
NM_001386140.1(MTTP):c.927G>A (p.Arg309=) rs1001965936
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432

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