ClinVar Miner

List of variants studied for arterial tortuosity syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.*2176T>C rs1059217 0.40292
NM_030777.4(SLC2A10):c.*2285T>G rs1136540 0.40283
NM_030777.4(SLC2A10):c.*2365T>A rs1136544 0.38922
NM_030777.4(SLC2A10):c.*1293T>C rs707507 0.38336
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_030777.4(SLC2A10):c.*56A>G rs112821000 0.02108
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_030777.4(SLC2A10):c.*143G>A rs35691491 0.01384
NM_030777.4(SLC2A10):c.*280C>T rs6018009 0.01365
NM_030777.4(SLC2A10):c.*334A>G rs6018010 0.01363
NM_030777.4(SLC2A10):c.-27C>T rs149481442 0.01295
NM_030777.4(SLC2A10):c.*1340G>A rs78189695 0.01153
NM_030777.4(SLC2A10):c.*1100T>G rs6094450 0.00880
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_030777.4(SLC2A10):c.*50T>C rs36103903 0.00858
NM_030777.4(SLC2A10):c.*478G>A rs113058599 0.00747
NM_030777.4(SLC2A10):c.*32T>C rs78864327 0.00746
NM_030777.4(SLC2A10):c.*513T>C rs111352987 0.00743
NM_030777.4(SLC2A10):c.*641G>A rs113629687 0.00741
NM_030777.4(SLC2A10):c.*809C>T rs114681513 0.00646
NM_030777.4(SLC2A10):c.*958C>T rs189464814 0.00562
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_030777.4(SLC2A10):c.*1449T>C rs181344940 0.00451
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00243
NM_030777.4(SLC2A10):c.*29C>G rs34965637 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_030777.4(SLC2A10):c.*194G>T rs192739192 0.00240
NM_030777.4(SLC2A10):c.*1272G>C rs562491351 0.00185
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_030777.4(SLC2A10):c.*410A>C rs146660985 0.00039
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00034
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00003
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.*1141G>A rs571798872
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1249G>A rs940735282
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*659G>A rs868705835
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726

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