ClinVar Miner

List of variants studied for intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1103G>A (p.Arg368His) rs1259610303 0.00001
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn) rs750256116 0.00001
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln) rs2142839453
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006565.4(CTCF):c.1025G>A (p.Arg342His) rs1002125753
NM_006565.4(CTCF):c.1078A>C (p.Ser360Arg) rs2142839790
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1117C>G (p.His373Asp) rs2142847326
NM_006565.4(CTCF):c.1118A>C (p.His373Pro) rs2142847343
NM_006565.4(CTCF):c.1130G>A (p.Arg377His) rs968244943
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu) rs2142847512
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr) rs2142849459
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006565.4(CTCF):c.148dup (p.Val50fs) rs2142823841
NM_006565.4(CTCF):c.1585G>A (p.Asp529Asn) rs201123106
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter) rs2142887156
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) rs146712579
NM_006565.4(CTCF):c.292_293del (p.Leu98fs) rs2142824576
NM_006565.4(CTCF):c.329dup (p.Gly111fs) rs2052056650
NM_006565.4(CTCF):c.375dup (p.Val126fs) rs879255570
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.688del (p.Glu230fs) rs2142826656
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006565.4(CTCF):c.782-1G>T rs2142827936
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006565.4(CTCF):c.804_805del (p.Cys268_Glu269delinsTer) rs2142828055
NM_006565.4(CTCF):c.833G>T (p.Arg278Leu) rs779012125
NM_006565.4(CTCF):c.848G>A (p.Arg283His) rs1567609067
NM_006565.4(CTCF):c.881A>C (p.His294Pro) rs2052068772
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser) rs2052136913

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