ClinVar Miner

List of variants reported as uncertain significance for Syndromic X-linked intellectual disability 14

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His) rs146785878 0.00013
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp) rs374676402 0.00007
NM_080632.3(UPF3B):c.277A>G (p.Met93Val) rs770557726 0.00004
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln) rs185347914 0.00002
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln) rs775993429 0.00002
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu) rs780652469 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly) rs1402767794 0.00001
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu) rs898086981 0.00001
NM_080632.3(UPF3B):c.1302+6G>A rs752421745 0.00001
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro) rs748622995 0.00001
NM_080632.3(UPF3B):c.763A>G (p.Arg255Gly) rs985384811 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys) rs376175156 0.00001
NC_000023.10:g.(?_118708675)_(119761021_?)dup
NC_000023.10:g.(?_118968821)_(118986911_?)dup
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
NM_080632.3(UPF3B):c.263+19_263+20delinsAA
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly) rs2147790181
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del) rs2056156815
NM_080632.3(UPF3B):c.815G>A (p.Arg272Lys)
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)

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