ClinVar Miner

List of variants reported as uncertain significance for Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia

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Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254 0.00011
NM_000112.4(SLC26A2):c.1487G>A (p.Arg496His) rs150314895 0.00009
NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys) rs200897133 0.00009
NM_000112.4(SLC26A2):c.704C>T (p.Ala235Val) rs777906405 0.00009
NM_000112.4(SLC26A2):c.1192G>A (p.Val398Ile) rs374310335 0.00004
NM_000112.4(SLC26A2):c.566A>G (p.His189Arg) rs775447660 0.00004
NM_000112.4(SLC26A2):c.956A>G (p.Lys319Arg) rs536416205 0.00004
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.1735A>G (p.Lys579Glu) rs375785597 0.00003
NM_000112.4(SLC26A2):c.2147T>C (p.Met716Thr) rs760613033 0.00003
NM_000112.4(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029 0.00003
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu) rs104893917 0.00003
NM_000112.4(SLC26A2):c.1355A>G (p.His452Arg) rs1255485754 0.00002
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys) rs762787339 0.00002
NM_000112.4(SLC26A2):c.535G>A (p.Glu179Lys) rs755031722 0.00002
NM_000112.4(SLC26A2):c.712T>G (p.Phe238Val) rs746734591 0.00002
NM_000112.4(SLC26A2):c.1057C>T (p.His353Tyr) rs758078719 0.00001
NM_000112.4(SLC26A2):c.1085G>T (p.Gly362Val) rs1215069127 0.00001
NM_000112.4(SLC26A2):c.1120C>T (p.Pro374Ser) rs763082940 0.00001
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) rs794727476 0.00001
NM_000112.4(SLC26A2):c.134A>G (p.Asn45Ser) rs773892702 0.00001
NM_000112.4(SLC26A2):c.1427A>G (p.Tyr476Cys) rs145765282 0.00001
NM_000112.4(SLC26A2):c.1615A>G (p.Ile539Val) rs1448915287 0.00001
NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His) rs368864462 0.00001
NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu) rs1387357203 0.00001
NM_000112.4(SLC26A2):c.1847C>T (p.Ala616Val) rs780207230 0.00001
NM_000112.4(SLC26A2):c.2012G>A (p.Arg671His) rs1038419867 0.00001
NM_000112.4(SLC26A2):c.2094A>C (p.Glu698Asp) rs371461728 0.00001
NM_000112.4(SLC26A2):c.2184A>G (p.Val728=) rs758010725 0.00001
NM_000112.4(SLC26A2):c.533G>A (p.Arg178Gln) rs747117439 0.00001
NM_000112.4(SLC26A2):c.699+3A>C rs778015831 0.00001
NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser) rs1419613966 0.00001
NM_000112.4(SLC26A2):c.940G>A (p.Val314Ile) rs777527899 0.00001
NM_000112.4(SLC26A2):c.1040C>T (p.Ser347Phe)
NM_000112.4(SLC26A2):c.1052A>G (p.Lys351Arg)
NM_000112.4(SLC26A2):c.1091T>C (p.Ile364Thr) rs1360579129
NM_000112.4(SLC26A2):c.1112C>T (p.Pro371Leu)
NM_000112.4(SLC26A2):c.1114A>G (p.Lys372Glu) rs1755081510
NM_000112.4(SLC26A2):c.1115A>G (p.Lys372Arg)
NM_000112.4(SLC26A2):c.1135A>C (p.Ile379Leu)
NM_000112.4(SLC26A2):c.1154A>C (p.Asp385Ala) rs2113698323
NM_000112.4(SLC26A2):c.1169C>T (p.Ser390Phe)
NM_000112.4(SLC26A2):c.117C>G (p.Phe39Leu)
NM_000112.4(SLC26A2):c.1229A>G (p.Tyr410Cys) rs1297067317
NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val) rs374309119
NM_000112.4(SLC26A2):c.1264G>A (p.Gly422Ser)
NM_000112.4(SLC26A2):c.1265G>C (p.Gly422Ala)
NM_000112.4(SLC26A2):c.1312G>T (p.Ala438Ser)
NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)
NM_000112.4(SLC26A2):c.1405C>G (p.Leu469Val)
NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)
NM_000112.4(SLC26A2):c.1439A>G (p.Lys480Arg)
NM_000112.4(SLC26A2):c.1447C>T (p.Leu483Phe)
NM_000112.4(SLC26A2):c.1463T>C (p.Ile488Thr) rs2113698778
NM_000112.4(SLC26A2):c.1481C>T (p.Ala494Val)
NM_000112.4(SLC26A2):c.1486C>T (p.Arg496Cys)
NM_000112.4(SLC26A2):c.149C>T (p.Pro50Leu) rs1755018969
NM_000112.4(SLC26A2):c.1541T>C (p.Ile514Thr)
NM_000112.4(SLC26A2):c.1549G>C (p.Val517Leu)
NM_000112.4(SLC26A2):c.1564T>C (p.Ser522Pro)
NM_000112.4(SLC26A2):c.1616T>A (p.Ile539Lys)
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His) rs745802790
NM_000112.4(SLC26A2):c.1655C>T (p.Ser552Leu) rs1755094376
NM_000112.4(SLC26A2):c.1666T>A (p.Leu556Met) rs1755094647
NM_000112.4(SLC26A2):c.1670T>C (p.Val557Ala)
NM_000112.4(SLC26A2):c.1685T>C (p.Val562Ala)
NM_000112.4(SLC26A2):c.1724A>G (p.Lys575Arg)
NM_000112.4(SLC26A2):c.1739T>C (p.Ile580Thr)
NM_000112.4(SLC26A2):c.1759C>T (p.Leu587Phe) rs2113699190
NM_000112.4(SLC26A2):c.1816C>A (p.Pro606Thr) rs767618201
NM_000112.4(SLC26A2):c.1819A>G (p.Ile607Val)
NM_000112.4(SLC26A2):c.1840AAG[1] (p.Lys615del)
NM_000112.4(SLC26A2):c.1898A>T (p.Asp633Val)
NM_000112.4(SLC26A2):c.1939C>T (p.His647Tyr)
NM_000112.4(SLC26A2):c.1992C>G (p.Ile664Met)
NM_000112.4(SLC26A2):c.199A>C (p.Lys67Gln)
NM_000112.4(SLC26A2):c.2006A>T (p.Glu669Val) rs574817339
NM_000112.4(SLC26A2):c.2011C>T (p.Arg671Cys)
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val)
NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys) rs772655429
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000112.4(SLC26A2):c.2037C>G (p.Ile679Met)
NM_000112.4(SLC26A2):c.2042T>A (p.Val681Asp) rs1755104737
NM_000112.4(SLC26A2):c.2044C>G (p.Leu682Val) rs751425859
NM_000112.4(SLC26A2):c.205T>C (p.Phe69Leu)
NM_000112.4(SLC26A2):c.2060A>G (p.Asn687Ser)
NM_000112.4(SLC26A2):c.2065A>G (p.Thr689Ala)
NM_000112.4(SLC26A2):c.2068G>A (p.Val690Met) rs746291695
NM_000112.4(SLC26A2):c.2146A>G (p.Met716Val)
NM_000112.4(SLC26A2):c.2217_*4del (p.Asp739fs)
NM_000112.4(SLC26A2):c.225GAA[1] (p.Lys76del) rs1204857377
NM_000112.4(SLC26A2):c.25C>G (p.His9Asp)
NM_000112.4(SLC26A2):c.264G>A (p.Met88Ile)
NM_000112.4(SLC26A2):c.370C>A (p.Pro124Thr)
NM_000112.4(SLC26A2):c.381T>G (p.Ile127Met)
NM_000112.4(SLC26A2):c.431C>A (p.Ser144Tyr)
NM_000112.4(SLC26A2):c.469T>A (p.Ser157Thr)
NM_000112.4(SLC26A2):c.473G>T (p.Arg158Leu) rs143658243
NM_000112.4(SLC26A2):c.560A>G (p.Asn187Ser)
NM_000112.4(SLC26A2):c.568A>G (p.Ser190Gly)
NM_000112.4(SLC26A2):c.596A>G (p.Asn199Ser) rs2113696251
NM_000112.4(SLC26A2):c.610T>G (p.Leu204Val)
NM_000112.4(SLC26A2):c.617A>G (p.His206Arg)
NM_000112.4(SLC26A2):c.627C>A (p.Asp209Glu)
NM_000112.4(SLC26A2):c.630G>C (p.Arg210Ser)
NM_000112.4(SLC26A2):c.635G>T (p.Cys212Phe)
NM_000112.4(SLC26A2):c.650A>G (p.Tyr217Cys)
NM_000112.4(SLC26A2):c.695A>G (p.Tyr232Cys)
NM_000112.4(SLC26A2):c.706A>G (p.Met236Val)
NM_000112.4(SLC26A2):c.718C>G (p.Gln240Glu) rs1755069507
NM_000112.4(SLC26A2):c.719A>T (p.Gln240Leu)
NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val)
NM_000112.4(SLC26A2):c.74C>G (p.Ser25Cys)
NM_000112.4(SLC26A2):c.775G>A (p.Gly259Ser) rs2113697704
NM_000112.4(SLC26A2):c.779C>T (p.Ala260Val)
NM_000112.4(SLC26A2):c.833C>T (p.Pro278Leu) rs1755072978
NM_000112.4(SLC26A2):c.836G>C (p.Arg279Pro) rs114569184
NM_000112.4(SLC26A2):c.842_865del (p.Asn281_Thr288del) rs2113697812
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg) rs571410872
NM_000112.4(SLC26A2):c.854C>T (p.Ser285Leu) rs140041300
NM_000112.4(SLC26A2):c.866C>A (p.Thr289Asn) rs1225377370
NM_000112.4(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.902A>G (p.Asn301Ser) rs750646790
NM_000112.4(SLC26A2):c.925C>T (p.Leu309Phe)
NM_000112.4(SLC26A2):c.953C>T (p.Thr318Ile)
NM_000112.4(SLC26A2):c.95A>T (p.Gln32Leu)
NM_000112.4(SLC26A2):c.965A>G (p.Asn322Ser) rs2113698024
NM_000112.4(SLC26A2):c.980C>T (p.Ser327Phe)
NM_000112.4(SLC26A2):c.990_992del (p.Ala331del)

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