ClinVar Miner

List of variants reported as pathogenic for Intellectual disability by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=) rs1447282271 0.00002
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs) rs1057517408
NM_001008537.3(NEXMIF):c.643G>T (p.Gly215Ter) rs2147441502
NM_001161.5(NUDT2):c.186del (p.Ala63fs) rs529087882
NM_001347721.2(DYRK1A):c.1270G>T (p.Gly424Ter) rs1555990805
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001367873.1(SOX6):c.878dup (p.Gly294fs) rs1849236698
NM_001372044.2(SHANK3):c.5011_5012del (p.Gly1671fs) rs1385882031
NM_001378418.1(TCF20):c.3760dup (p.Arg1254fs) rs1569146649
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs) rs1973345860
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002516.4(NOVA2):c.729del (p.Ala244fs) rs2146406775
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys) rs863225264
NM_005629.4(SLC6A8):c.1016+2_1016+5del rs2148363006
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs) rs886041125
NM_015021.3(ZNF292):c.6145dup (p.Ser2049fs) rs764995318
NM_017635.5(KMT5B):c.2393dup (p.Asn798fs) rs2153039995
NM_017635.5(KMT5B):c.609C>A (p.Tyr203Ter) rs2153054646
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_020699.4(GATAD2B):c.1417C>T (p.Gln473Ter) rs1674353634
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs) rs1579576029
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs) rs2087233948
NM_138927.4(SON):c.3334del (p.Arg1112fs) rs2145828175
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
Single allele

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