ClinVar Miner

List of variants reported as likely pathogenic for Developmental disorder by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_001040142.2(SCN2A):c.4904G>A (p.Arg1635Gln) rs1057520844
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)
NM_001190274.2(FBXO11):c.1921G>A (p.Val641Ile)
NM_001219.5(CALU):c.700C>T (p.Arg234Ter)
NM_001282116.2(RFX3):c.1473del (p.Phe492fs)
NM_003106.4(SOX2):c.368A>G (p.Asp123Gly) rs1249553271
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_005560.6(LAMA5):c.5071G>T (p.Glu1691Ter)
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006186.4(NR4A2):c.1405del (p.Val469fs)
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006852.6(TLK2):c.1286+5G>A
NM_007347.5(AP4E1):c.150+593C>G
NM_012330.4(KAT6B):c.5041G>A (p.Glu1681Lys) rs1564632292
NM_016035.5(COQ4):c.230C>T (p.Thr77Ile)
NM_019066.5(MAGEL2):c.224del (p.Pro75fs) rs2140719261
NM_020180.4(CELF4):c.792C>A (p.Tyr264Ter)
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_171998.4(RAB39B):c.559del (p.Glu187fs) rs2124126312
NM_207037.2(TCF12):c.579+2T>C rs2151744236

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