ClinVar Miner

List of variants reported as pathogenic for Intellectual disability by Raymond Lab, University of Cambridge

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001145073.3(USP27X):c.310_311del (p.Asp104fs) rs1601932069
NM_001378418.1(TCF20):c.3803_3804del (p.Arg1268fs) rs1569146542
NM_001379110.1(SLC9A6):c.637+1G>A rs1603198937
NM_002025.4(AFF2):c.3229C>T (p.Gln1077Ter) rs1603350606
NM_003124.5(SPR):c.305-2A>G rs1573882268
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu) rs1431778557
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs) rs1597846084
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_020435.4(GJC2):c.107del (p.Ile36fs) rs1571907430
NM_021120.4(DLG3):c.1375_1378del (p.Val459fs) rs1602880906
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs) rs1595808957
NM_139058.3(ARX):c.1446_1448+1dup rs1601946481
NM_153252.5(BRWD3):c.3791del (p.Ser1264fs) rs1602308324
Single allele

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