ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 4

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00040
NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp) rs148429527 0.00009
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe) rs139935751 0.00009
NM_006265.3(RAD21):c.1620G>A (p.Glu540=) rs746050594 0.00006
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) rs767342502 0.00004
NM_006265.3(RAD21):c.814+6C>G rs375138699 0.00004
NM_006265.3(RAD21):c.892C>G (p.Pro298Ala) rs148308569 0.00004
NM_006265.3(RAD21):c.1400C>T (p.Ala467Val) rs1445148501 0.00003
NM_006265.3(RAD21):c.1757G>A (p.Arg586Gln) rs780692465 0.00003
NM_006265.3(RAD21):c.1782C>T (p.Ala594=) rs61737172 0.00003
NM_006265.3(RAD21):c.1161+5T>C rs200852626 0.00002
NM_006265.3(RAD21):c.1364T>C (p.Val455Ala) rs373625369 0.00002
NM_006265.3(RAD21):c.1489A>G (p.Met497Val) rs533404372 0.00002
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln) rs373026310 0.00002
NM_006265.3(RAD21):c.1706G>A (p.Arg569His) rs767839436 0.00002
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg) rs367562161 0.00002
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile) rs371948457 0.00001
NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys) rs1357605618 0.00001
NM_006265.3(RAD21):c.1273G>A (p.Val425Ile) rs781747488 0.00001
NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser) rs1033410740 0.00001
NM_006265.3(RAD21):c.1320C>T (p.Ile440=) rs776397992 0.00001
NM_006265.3(RAD21):c.1349G>A (p.Arg450His) rs1051321465 0.00001
NM_006265.3(RAD21):c.1446A>T (p.Gln482His) rs756283022 0.00001
NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser) rs1202371552 0.00001
NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg) rs1281760771 0.00001
NM_006265.3(RAD21):c.1724G>C (p.Gly575Ala) rs762827934 0.00001
NM_006265.3(RAD21):c.1888A>G (p.Ile630Val) rs769825200 0.00001
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro) rs755363046 0.00001
NM_006265.3(RAD21):c.687A>C (p.Leu229Phe) rs774987531 0.00001
NM_006265.3(RAD21):c.745T>C (p.Ser249Pro) rs138762840 0.00001
NM_006265.3(RAD21):c.865A>G (p.Thr289Ala) rs1485628801 0.00001
NM_006265.3(RAD21):c.868A>G (p.Met290Val) rs761253664 0.00001
NM_006265.3(RAD21):c.925A>G (p.Ile309Val) rs1812459300 0.00001
GRCh38/hg38 8q24.11(chr8:116871751-116875180)x1
NC_000008.10:g.(?_117574515)_(117878968_?)dup
NC_000008.10:g.(?_117859739)_(117861288_?)dup
NC_000008.10:g.(?_117859739)_(117866727_?)dup
NM_006265.3(RAD21):c.1048A>G (p.Thr350Ala)
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro) rs2537292854
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val) rs2537292838
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val) rs2537292803
NM_006265.3(RAD21):c.1183C>G (p.Pro395Ala)
NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe) rs2537291213
NM_006265.3(RAD21):c.1214G>A (p.Arg405Lys)
NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser) rs758179505
NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser) rs2537291161
NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del) rs2130459649
NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg) rs752923760
NM_006265.3(RAD21):c.1309C>T (p.Arg437Cys)
NM_006265.3(RAD21):c.1315G>A (p.Val439Ile)
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro) rs2537290084
NM_006265.3(RAD21):c.1375A>C (p.Ser459Arg)
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del) rs768077375
NM_006265.3(RAD21):c.1390G>C (p.Asp464His)
NM_006265.3(RAD21):c.1402A>G (p.Met468Val)
NM_006265.3(RAD21):c.1417C>T (p.Pro473Ser)
NM_006265.3(RAD21):c.1420C>G (p.Gln474Glu)
NM_006265.3(RAD21):c.144+5G>A rs2537308905
NM_006265.3(RAD21):c.1460C>T (p.Pro487Leu)
NM_006265.3(RAD21):c.1513C>G (p.Pro505Ala)
NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg) rs781356173
NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala) rs2537287798
NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser) rs2130456151
NM_006265.3(RAD21):c.1543C>G (p.Leu515Val)
NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser) rs2537287758
NM_006265.3(RAD21):c.1579_1581del (p.Lys527del) rs1365277271
NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del) rs2537287584
NM_006265.3(RAD21):c.1621-12A>T rs1812300410
NM_006265.3(RAD21):c.1621-13C>T rs1448405817
NM_006265.3(RAD21):c.1631C>T (p.Ala544Val)
NM_006265.3(RAD21):c.1694A>G (p.His565Arg) rs1299225160
NM_006265.3(RAD21):c.1705-2A>G rs2537283456
NM_006265.3(RAD21):c.1717A>G (p.Lys573Glu)
NM_006265.3(RAD21):c.1727C>T (p.Ala576Val) rs371687174
NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys) rs2537283402
NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser) rs2130450108
NM_006265.3(RAD21):c.1744C>A (p.Leu582Ile)
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn) rs1203951092
NM_006265.3(RAD21):c.1852A>G (p.Ser618Gly) rs1554610467
NM_006265.3(RAD21):c.1863C>G (p.Ile621Met) rs763059424
NM_006265.3(RAD21):c.1890T>G (p.Ile630Met) rs2537283120
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006265.3(RAD21):c.275-3_275-2dup
NM_006265.3(RAD21):c.375-3A>C
NM_006265.3(RAD21):c.381C>A (p.Ile127=)
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile) rs2537299262
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp) rs2537297912
NM_006265.3(RAD21):c.513G>A (p.Met171Ile) rs2537297880
NM_006265.3(RAD21):c.623A>G (p.His208Arg) rs1586268513
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser) rs2537297697
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser) rs2537297677
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu) rs2537296726
NM_006265.3(RAD21):c.769G>C (p.Glu257Gln)
NM_006265.3(RAD21):c.789T>A (p.Asp263Glu)
NM_006265.3(RAD21):c.808G>A (p.Val270Ile)
NM_006265.3(RAD21):c.838T>A (p.Ser280Thr) rs2130466663
NM_006265.3(RAD21):c.850G>A (p.Val284Ile) rs760261220
NM_006265.3(RAD21):c.871A>G (p.Thr291Ala) rs2130466414
NM_006265.3(RAD21):c.879A>C (p.Gln293His)
NM_006265.3(RAD21):c.937+6C>T

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