ClinVar Miner

List of variants studied for achondrogenesis by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143
NM_000112.3(SLC26A2):c.1194A>T (p.Val398=) rs886038240
NM_000112.3(SLC26A2):c.1234G>A (p.Val412Ile) rs201714602
NM_000112.3(SLC26A2):c.1410A>G (p.Val470=) rs115777661
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1707C>G (p.Tyr569Ter) rs766836061
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.1761C>T (p.Leu587=) rs745590895
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.2046G>A (p.Leu682=) rs116657359
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918
NM_000112.3(SLC26A2):c.2145G>A (p.Ala715=) rs886060225
NM_000112.3(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029
NM_000112.3(SLC26A2):c.2220A>G (p.Ter740=) rs61732052
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.3(SLC26A2):c.468C>T (p.Thr156=) rs111788154
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.697C>T (p.Gln233Ter) rs1429562386
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.807C>T (p.Ala269=) rs148445106
NM_000112.3(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1059T>C (p.His353=) rs114841644
NM_000112.4(SLC26A2):c.1343C>G (p.Ser448Ter)
NM_000112.4(SLC26A2):c.138dup (p.Gln47fs)
NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)
NM_000112.4(SLC26A2):c.1432del (p.Leu478fs)
NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)
NM_000112.4(SLC26A2):c.1625_1650delinsAACACCA (p.Val542fs)
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484
NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs)
NM_000112.4(SLC26A2):c.2037C>T (p.Ile679=) rs762132863
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) rs769859976
NM_000112.4(SLC26A2):c.474T>C (p.Arg158=) rs374572095
NM_000112.4(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.4(SLC26A2):c.705G>A (p.Ala235=) rs112360373
NM_000112.4(SLC26A2):c.819del (p.Leu275fs)
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) rs376669587
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) rs200567543
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) rs755311537
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) rs34761938
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu)
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val)
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186
NM_004239.4(TRIP11):c.1527+6A>G rs17127844
NM_004239.4(TRIP11):c.1527+7C>G rs372704269
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) rs1018806781
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly)
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) rs35991093
NM_004239.4(TRIP11):c.202-7T>A rs56034853
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) rs188524590
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) rs114300046
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) rs745959376
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) rs201567600
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) rs1178042413
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) rs372227102
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) rs1053206465
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) rs1306336953
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) rs1566859264
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) rs1466692158
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) rs191280213
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs)
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly)
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) rs548160101
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) rs144829001
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) rs1595386646
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) rs140070005
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg)
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu)
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu)
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys)
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val)
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552
NM_004239.4(TRIP11):c.5057-9T>G rs372161255
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) rs146963789
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) rs137914270
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) rs550137986
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) rs1051340
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672
NM_004239.4(TRIP11):c.5719+2T>C rs199736345
NM_004239.4(TRIP11):c.5720-5T>G
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) rs137938779
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719
NM_004239.4(TRIP11):c.615_616CT[1] (p.Asn205_Ser206insTer) rs1566867763
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) rs202127909
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) rs145020414
NM_004239.4(TRIP11):c.81dup (p.Gly28fs)
NM_004239.4(TRIP11):c.986_987GA[1] (p.Asp330fs) rs750602133

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