ClinVar Miner

List of variants in gene RAD21 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg) rs144953114 0.00034
NM_006265.3(RAD21):c.1479G>C (p.Gln493His) rs759030507 0.00009
NM_006265.3(RAD21):c.1711C>T (p.Leu571Phe) rs139935751 0.00009
NM_006265.3(RAD21):c.640C>G (p.Gln214Glu) rs767342502 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.1364T>C (p.Val455Ala) rs373625369 0.00002
NM_006265.3(RAD21):c.1576G>C (p.Glu526Gln) rs373026310 0.00002
NM_006265.3(RAD21):c.1189G>A (p.Val397Ile) rs371948457 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.1724G>C (p.Gly575Ala) rs762827934 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
NC_000008.10:g.(?_117859739)_(117866727_?)dup
NM_006265.3(RAD21):c.1120T>C (p.Ser374Pro)
NM_006265.3(RAD21):c.1130C>T (p.Ala377Val)
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006265.3(RAD21):c.1153C>G (p.Leu385Val)
NM_006265.3(RAD21):c.1186C>T (p.Leu396Phe)
NM_006265.3(RAD21):c.1211G>A (p.Arg404Lys)
NM_006265.3(RAD21):c.1228G>T (p.Ala410Ser)
NM_006265.3(RAD21):c.1235A>G (p.Asn412Ser)
NM_006265.3(RAD21):c.1273G>A (p.Val425Ile)
NM_006265.3(RAD21):c.1276C>T (p.Pro426Ser)
NM_006265.3(RAD21):c.1296GCA[1] (p.Gln433del) rs2130459649
NM_006265.3(RAD21):c.1298A>G (p.Gln433Arg)
NM_006265.3(RAD21):c.1359_1360delinsTC (p.Glu453_Ser454delinsAspPro)
NM_006265.3(RAD21):c.1382_1384del (p.Thr461del)
NM_006265.3(RAD21):c.144+5G>A
NM_006265.3(RAD21):c.1489A>G (p.Met497Val)
NM_006265.3(RAD21):c.1517C>G (p.Pro506Arg)
NM_006265.3(RAD21):c.1528C>G (p.Pro510Ala)
NM_006265.3(RAD21):c.1532A>G (p.Asn511Ser) rs1202371552
NM_006265.3(RAD21):c.1538G>C (p.Cys513Ser)
NM_006265.3(RAD21):c.1549C>T (p.Pro517Ser)
NM_006265.3(RAD21):c.1579_1581del (p.Lys527del)
NM_006265.3(RAD21):c.1592A>G (p.Lys531Arg)
NM_006265.3(RAD21):c.1602A>T (p.Glu534Asp)
NM_006265.3(RAD21):c.1608_1613del (p.Asp536_Glu537del)
NM_006265.3(RAD21):c.1620G>A (p.Glu540=)
NM_006265.3(RAD21):c.1621-12A>T
NM_006265.3(RAD21):c.1621-13C>T
NM_006265.3(RAD21):c.1694A>G (p.His565Arg)
NM_006265.3(RAD21):c.1705-2A>G
NM_006265.3(RAD21):c.1727C>T (p.Ala576Val)
NM_006265.3(RAD21):c.1729G>A (p.Glu577Lys)
NM_006265.3(RAD21):c.1742T>C (p.Leu581Ser) rs2130450108
NM_006265.3(RAD21):c.1811A>G (p.Lys604Arg)
NM_006265.3(RAD21):c.1815G>C (p.Lys605Asn)
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)
NM_006265.3(RAD21):c.1895A>G (p.Ter632=)
NM_006265.3(RAD21):c.273A>G (p.Pro91=) rs1812624997
NM_006265.3(RAD21):c.431C>T (p.Thr144Ile)
NM_006265.3(RAD21):c.482G>A (p.Gly161Asp)
NM_006265.3(RAD21):c.513G>A (p.Met171Ile)
NM_006265.3(RAD21):c.583T>C (p.Ser195Pro)
NM_006265.3(RAD21):c.623A>G (p.His208Arg)
NM_006265.3(RAD21):c.676G>A (p.Gly226Ser)
NM_006265.3(RAD21):c.686T>C (p.Leu229Ser)
NM_006265.3(RAD21):c.767C>T (p.Pro256Leu)
NM_006265.3(RAD21):c.814+6C>G
NM_006265.3(RAD21):c.838T>A (p.Ser280Thr)
NM_006265.3(RAD21):c.850G>A (p.Val284Ile) rs760261220
NM_006265.3(RAD21):c.865A>G (p.Thr289Ala)
NM_006265.3(RAD21):c.868A>G (p.Met290Val)
NM_006265.3(RAD21):c.871A>G (p.Thr291Ala)
NM_006265.3(RAD21):c.925A>G (p.Ile309Val)

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