ClinVar Miner

List of variants reported as likely pathogenic by Shaikh Laboratory, University of Colorado

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Total variants: 21
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HGVS dbSNP
NC_000023.10:g.(?_43479884)_(45501849_?)del
NC_000023.10:g.(?_43479884)_(46741003_?)del
NM_001291415.1(KDM6A):c.3892+2T>C rs793888510
NM_001291415.1(KDM6A):c.752G>A (p.Trp251Ter) rs793888509
NM_003482.3(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) rs759803583
NM_003482.3(KMT2D):c.12688C>T (p.Gln4230Ter) rs793888511
NM_003482.3(KMT2D):c.14659G>T (p.Glu4887Ter) rs793888513
NM_003482.3(KMT2D):c.14732C>T (p.Pro4911Leu) rs183347186
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003482.3(KMT2D):c.15235_15238del (p.Asn5079fs) rs793888514
NM_003482.3(KMT2D):c.16413-1G>C rs793888515
NM_003482.3(KMT2D):c.5908_5915del (p.Asp1970fs) rs398123751
NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs) rs398123753
NM_003482.3(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.9961C>T (p.Arg3321Ter) rs793888512
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) rs758022116
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) rs188675529
NM_032824.3(TMEM87B):c.1366A>G (p.Asn456Asp) rs369634007
Single allele

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