ClinVar Miner

List of variants reported as uncertain significance for agenesis of the corpus callosum with peripheral neuropathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.*2516T>C rs199752906 0.05244
NM_001365088.1(SLC12A6):c.*2293G>A rs200579522 0.01153
NM_001365088.1(SLC12A6):c.*2289_*2293del rs886051041 0.00864
NM_001365088.1(SLC12A6):c.*2852T>C rs117020610 0.00737
NM_001365088.1(SLC12A6):c.*2289G>A rs113459768 0.00511
NM_001365088.1(SLC12A6):c.*2261G>A rs181064062 0.00391
NM_001365088.1(SLC12A6):c.*203T>C rs547741348 0.00185
NM_001365088.1(SLC12A6):c.*639A>G rs553037996 0.00083
NM_001365088.1(SLC12A6):c.*244G>A rs183696226 0.00063
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.*3842G>T rs552491692 0.00061
NM_001365088.1(SLC12A6):c.*2516_*2517insTC rs538475109 0.00049
NM_001365088.1(SLC12A6):c.*2301G>T rs528941290 0.00047
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.*1249C>T rs765365636 0.00031
NM_001365088.1(SLC12A6):c.*2129T>C rs535022392 0.00029
NM_001365088.1(SLC12A6):c.*3755T>C rs557606663 0.00028
NM_001365088.1(SLC12A6):c.*2731G>A rs531551756 0.00027
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365088.1(SLC12A6):c.1943+15T>C rs200544602 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_001365088.1(SLC12A6):c.*474C>T rs532826858 0.00018
NM_001365088.1(SLC12A6):c.*691C>T rs753038190 0.00016
NM_001365088.1(SLC12A6):c.*3497C>T rs886051037 0.00014
NM_001365088.1(SLC12A6):c.*1493G>A rs773469501 0.00013
NM_001365088.1(SLC12A6):c.*2346C>T rs188296648 0.00013
NM_001365088.1(SLC12A6):c.*751T>C rs779634707 0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001365088.1(SLC12A6):c.*94G>C rs117540484 0.00012
NM_001365088.1(SLC12A6):c.*2088C>T rs886051043 0.00010
NM_001365088.1(SLC12A6):c.*3580G>T rs549855456 0.00010
NM_001365088.1(SLC12A6):c.*456A>C rs187535372 0.00009
NM_001365088.1(SLC12A6):c.*1201T>C rs886051050 0.00008
NM_001365088.1(SLC12A6):c.*2404C>T rs138724264 0.00008
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001365088.1(SLC12A6):c.*2899A>T rs76780516 0.00006
NM_001365088.1(SLC12A6):c.*762C>T rs562472403 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 0.00006
NM_001365088.1(SLC12A6):c.*2754G>A rs949366523 0.00004
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001365088.1(SLC12A6):c.148A>C (p.Ser50Arg) rs746317063 0.00004
NM_001365088.1(SLC12A6):c.3228-15T>C rs376575991 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.*1568G>A rs886051047 0.00003
NM_001365088.1(SLC12A6):c.*1627T>C rs886051046 0.00003
NM_001365088.1(SLC12A6):c.*2220A>G rs886051042 0.00003
NM_001365088.1(SLC12A6):c.*3807_*3808del rs886051035 0.00003
NM_001365088.1(SLC12A6):c.*1149C>G rs1420791026 0.00002
NM_001365088.1(SLC12A6):c.*2017T>A rs1348991725 0.00002
NM_001365088.1(SLC12A6):c.*2029T>C rs1053131287 0.00002
NM_001365088.1(SLC12A6):c.*707G>A rs886051052 0.00002
NM_001365088.1(SLC12A6):c.168G>A (p.Arg56=) rs886051056 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.2935-11G>C rs770370694 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365088.1(SLC12A6):c.*1234A>G rs886051048 0.00001
NM_001365088.1(SLC12A6):c.*1815C>T rs886051045 0.00001
NM_001365088.1(SLC12A6):c.*2311A>G rs1890932964 0.00001
NM_001365088.1(SLC12A6):c.*2342C>T rs1352055490 0.00001
NM_001365088.1(SLC12A6):c.*3482C>G rs1019970553 0.00001
NM_001365088.1(SLC12A6):c.*461G>A rs1891061242 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.142C>T (p.Arg48Trp) rs1306630198 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365088.1(SLC12A6):c.*1211T>C rs886051049
NM_001365088.1(SLC12A6):c.*1607G>T rs1891000195
NM_001365088.1(SLC12A6):c.*171C>G rs746999362
NM_001365088.1(SLC12A6):c.*2039C>T rs886051044
NM_001365088.1(SLC12A6):c.*2127A>C rs931619573
NM_001365088.1(SLC12A6):c.*2139T>C rs1890960167
NM_001365088.1(SLC12A6):c.*2289GAAA[3] rs148811864
NM_001365088.1(SLC12A6):c.*2289_*2291del rs748613902
NM_001365088.1(SLC12A6):c.*2289_*2294del rs377402786
NM_001365088.1(SLC12A6):c.*2358_*2360del rs547947247
NM_001365088.1(SLC12A6):c.*2660C>G rs1890901344
NM_001365088.1(SLC12A6):c.*2684A>G rs886051040
NM_001365088.1(SLC12A6):c.*277A>G rs892177326
NM_001365088.1(SLC12A6):c.*2829G>A rs1181571458
NM_001365088.1(SLC12A6):c.*2909del rs886051039
NM_001365088.1(SLC12A6):c.*3162T>G rs886051038
NM_001365088.1(SLC12A6):c.*3219G>A rs1213035416
NM_001365088.1(SLC12A6):c.*3309del rs566619994
NM_001365088.1(SLC12A6):c.*3520C>G rs886051036
NM_001365088.1(SLC12A6):c.*3731dup rs566558212
NM_001365088.1(SLC12A6):c.*3828T>G rs1890819378
NM_001365088.1(SLC12A6):c.*38A>C rs969900949
NM_001365088.1(SLC12A6):c.*626T>G rs912650390
NM_001365088.1(SLC12A6):c.*695C>G rs886051053
NM_001365088.1(SLC12A6):c.*719dup rs775648289
NM_001365088.1(SLC12A6):c.*826C>T rs886051051
NM_001365088.1(SLC12A6):c.*876G>A rs185668908
NM_001365088.1(SLC12A6):c.*879C>T rs1290930021
NM_001365088.1(SLC12A6):c.*906G>C rs879186866
NM_001365088.1(SLC12A6):c.*912A>C rs1420495773
NM_001365088.1(SLC12A6):c.*918G>C rs888346162
NM_001365088.1(SLC12A6):c.*987G>A rs1769944086
NM_001365088.1(SLC12A6):c.-26C>G rs886051057
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1199C>T (p.Thr400Ile) rs1892447285
NM_001365088.1(SLC12A6):c.1409G>T (p.Gly470Val) rs886051054
NM_001365088.1(SLC12A6):c.1492+9A>G rs1566811997
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.1749T>C (p.Ala583=) rs1891939939
NM_001365088.1(SLC12A6):c.2163-14del rs771321354
NM_001365088.1(SLC12A6):c.2360A>G (p.Lys787Arg) rs1891585076
NM_001365088.1(SLC12A6):c.3005G>A (p.Arg1002Gln) rs778685963
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365088.1(SLC12A6):c.413A>C (p.Glu138Ala) rs1892933679
NM_001365088.1(SLC12A6):c.543+6G>T rs886051055
NM_001365088.1(SLC12A6):c.571G>A (p.Val191Ile) rs1892852155
NM_001365088.1(SLC12A6):c.63G>C (p.Lys21Asn) rs571064840

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