ClinVar Miner

List of variants reported as benign for disorder of polyamine metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_002451.4(MTAP):c.*3829T>C rs6475592 0.44086
NM_002451.4(MTAP):c.*884T>A rs1134871 0.44065
NM_002451.4(MTAP):c.*2365C>T rs10117550 0.43789
NM_002451.4(MTAP):c.166G>A (p.Val56Ile) rs7023954 0.42302
NM_002451.4(MTAP):c.*258A>C rs15735 0.39404
NM_002451.4(MTAP):c.*2085G>A rs10117507 0.24202
NM_002451.4(MTAP):c.*3093T>C rs4977735 0.21917
NM_002451.4(MTAP):c.*3946A>C rs10965168 0.21553
NM_002451.4(MTAP):c.*2522A>G rs3802394 0.21540
NM_002451.4(MTAP):c.*536G>A rs1134870 0.09270
NM_002451.4(MTAP):c.561C>T (p.Arg187=) rs10965163 0.05936
NM_002451.4(MTAP):c.*797C>T rs58555715 0.05202
NM_002451.4(MTAP):c.*3916C>T rs80226037 0.02945
NM_002451.4(MTAP):c.*2539A>G rs10123713 0.02620
NM_002451.4(MTAP):c.*2255A>G rs79020697 0.02054
NM_002451.4(MTAP):c.*657T>C rs146095448 0.01370
NM_002451.4(MTAP):c.*2873C>T rs75664572 0.01292
NM_002451.4(MTAP):c.*3851C>G rs76751525 0.01197
NM_002451.4(MTAP):c.*1181A>G rs182505150 0.00948
NM_002451.4(MTAP):c.*3144G>A rs148910202 0.00907
NM_002451.4(MTAP):c.*1341C>T rs111408881 0.00837
NM_002451.4(MTAP):c.*1936C>T rs117552951 0.00557
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500 0.00511
NM_002451.4(MTAP):c.*393G>C rs78389853 0.00498
NM_002451.4(MTAP):c.*1643G>T rs79546636 0.00491
NM_002451.4(MTAP):c.*3862C>T rs560167088 0.00339
NM_002451.4(MTAP):c.*707A>G rs138936486 0.00275
NM_002451.4(MTAP):c.*1038A>G rs180861815 0.00264
NM_002451.4(MTAP):c.*804T>C rs142144597 0.00253
NM_002451.4(MTAP):c.*3307G>T rs41270139 0.00172
NM_002451.4(MTAP):c.*895G>A rs41270137 0.00170
NM_002451.4(MTAP):c.691-13A>G rs77412364 0.00093
NM_002451.4(MTAP):c.*2238C>T rs150727017 0.00063
NM_002451.4(MTAP):c.*1065A>G rs187215052 0.00049
NM_002451.4(MTAP):c.*328T>C rs150414950 0.00048
NM_002451.4(MTAP):c.*1729G>A rs182527165 0.00036
NM_002451.4(MTAP):c.653C>T (p.Ala218Val) rs143080527 0.00030
NM_002451.4(MTAP):c.121-10T>C rs201864201 0.00026
NM_002451.4(MTAP):c.179+12T>A rs369294437 0.00025
NM_002451.4(MTAP):c.39A>C (p.Gly13=) rs139020435 0.00023
NM_002451.4(MTAP):c.566G>T (p.Trp189Leu) rs184520335 0.00019
NM_002451.4(MTAP):c.-5C>G rs375344882 0.00010
NM_002451.4(MTAP):c.136A>C (p.Ile46Leu) rs750076531 0.00009
NM_002451.4(MTAP):c.315C>T (p.Gly105=) rs147319145 0.00006
NM_002451.4(MTAP):c.*1225G>A rs556119629 0.00004
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570 0.00004
NM_002451.4(MTAP):c.*606A>G rs566061531 0.00003
NM_002451.4(MTAP):c.111A>G (p.Pro37=) rs774955664 0.00003
NM_002451.4(MTAP):c.*17A>G rs553057304 0.00001
NM_002451.4(MTAP):c.*2188C>T rs117300281 0.00001
NM_002451.4(MTAP):c.*15C>A rs754086497
NM_002451.4(MTAP):c.*1622del rs11358276
NM_002451.4(MTAP):c.*2279T>G rs529226542
NM_002451.4(MTAP):c.*2348dup rs397972510
NM_002451.4(MTAP):c.*259C>A rs78195856
NM_002451.4(MTAP):c.*775dup rs58147941

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