ClinVar Miner

List of variants reported for Global developmental delay by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) rs1575155995
NM_001080517.1:r.627_810del
NM_001282531.3(ADNP):c.673C>T (p.Arg225Ter) rs1057518991
NM_001347721.2(DYRK1A):c.300+846A>G rs2148574292
NM_001378418.1(TCF20):c.4267dup (p.Glu1423fs) rs2147200649
NM_003011.4(SET):c.130_133del (p.Arg44fs) rs1554776342
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004370.6(COL12A1):c.8453G>A (p.Gly2818Glu) rs1554168326
NM_006766.5(KAT6A):c.1506del (p.Asp503fs) rs2150871384
NM_014921.5(ADGRL1):c.3440T>C (p.Met1147Thr) rs2144613733
NM_015335.5(MED13L):c.1A>T (p.Met1Leu) rs1131691818
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) rs786205133
NM_020791.4(TAOK1):c.589A>C (p.Met197Leu) rs2153026918
NM_024496.4(IRF2BPL):c.1183G>C (p.Asp395His) rs759071794
NM_078629.4(MSL3):c.971_974del (p.Glu324fs) rs1601769604
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu) rs2123063802

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