ClinVar Miner

List of variants studied for Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_006565.4(CTCF):c.1702-10T>C rs151017109 0.00359
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
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.118T>G (p.Leu40Val) rs775896161 0.00001
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter) rs2142887156 0.00001
NM_006565.4(CTCF):c.1962A>C (p.Arg654=) rs772451262 0.00001
NM_006565.4(CTCF):c.638G>A (p.Arg213His) rs1390969954 0.00001
GRCh38/hg38 16q22.1(chr16:67623831-67627229)x1
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val) rs2141631138
NM_001378778.1(MPDZ):c.4384-282C>G
NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr) rs1589597598
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del) rs2142822830
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.1066T>G (p.Cys356Gly) rs2543463082
NM_006565.4(CTCF):c.1078A>C (p.Ser360Arg) rs2142839790
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys) rs1555535156
NM_006565.4(CTCF):c.1111C>T (p.Arg371Cys) rs2142847270
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.1119T>A (p.His373Gln) rs2142847350
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.1150T>C (p.Cys384Arg)
NM_006565.4(CTCF):c.1169A>G (p.Asp390Gly)
NM_006565.4(CTCF):c.1186dup (p.Arg396fs) rs879255571
NM_006565.4(CTCF):c.1223_1226del (p.Glu408fs) rs2142849423
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr) rs2142849459
NM_006565.4(CTCF):c.1235G>A (p.Cys412Tyr)
NM_006565.4(CTCF):c.1342C>T (p.Arg448Ter)
NM_006565.4(CTCF):c.1343G>A (p.Arg448Gln) rs2142849782
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) rs1597725291
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro) rs1406671449
NM_006565.4(CTCF):c.148dup (p.Val50fs) rs2142823841
NM_006565.4(CTCF):c.1573T>G (p.Cys525Gly)
NM_006565.4(CTCF):c.1585G>A (p.Asp529Asn) rs201123106
NM_006565.4(CTCF):c.1673_1675delinsTT (p.Ser558fs) rs2142867004
NM_006565.4(CTCF):c.1697G>A (p.Arg566His) rs1567616147
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp) rs879255516
NM_006565.4(CTCF):c.1745G>T (p.Gly582Val) rs2052333197
NM_006565.4(CTCF):c.1826C>A (p.Ser609Tyr) rs2052334460
NM_006565.4(CTCF):c.1837+1G>A
NM_006565.4(CTCF):c.1886C>T (p.Ala629Val)
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter) rs200677445
NM_006565.4(CTCF):c.203C>G (p.Pro68Arg) rs752391941
NM_006565.4(CTCF):c.2089G>T (p.Ala697Ser) rs201916739
NM_006565.4(CTCF):c.2139C>A (p.Asn713Lys) rs146712579
NM_006565.4(CTCF):c.216G>T (p.Gln72His) rs1413142440
NM_006565.4(CTCF):c.292_293del (p.Leu98fs) rs2142824576
NM_006565.4(CTCF):c.293T>G (p.Leu98Ter)
NM_006565.4(CTCF):c.298del (p.Val100fs)
NM_006565.4(CTCF):c.313G>A (p.Glu105Lys) rs2052056554
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) rs2543448397
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala) rs1430339540
NM_006565.4(CTCF):c.532_538del (p.Leu178fs) rs2543448876
NM_006565.4(CTCF):c.538_540dup (p.Gln180_Gly181insGln) rs2052059839
NM_006565.4(CTCF):c.575A>C (p.Gln192Pro) rs1326763921
NM_006565.4(CTCF):c.583C>G (p.Pro195Ala) rs2543449162
NM_006565.4(CTCF):c.611_614del (p.Thr204fs)
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006565.4(CTCF):c.677A>G (p.Tyr226Cys) rs2142826609
NM_006565.4(CTCF):c.688del (p.Glu230fs) rs2142826656
NM_006565.4(CTCF):c.721_722del (p.Asn241fs) rs2543449850
NM_006565.4(CTCF):c.773_776del (p.Lys258fs) rs1567608876
NM_006565.4(CTCF):c.778_781del (p.Lys260fs) rs2052063931
NM_006565.4(CTCF):c.782-1G>A rs2142827936
NM_006565.4(CTCF):c.782-1G>C rs2142827936
NM_006565.4(CTCF):c.782-1G>T rs2142827936
NM_006565.4(CTCF):c.782-2A>G rs1555534189
NM_006565.4(CTCF):c.782-2A>T
NM_006565.4(CTCF):c.784G>A (p.Val262Ile) rs751726330
NM_006565.4(CTCF):c.798C>G (p.Phe266Leu) rs2052068318
NM_006565.4(CTCF):c.802T>C (p.Cys268Arg)
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.867_868dup (p.Asp290fs) rs2543451915
NM_006565.4(CTCF):c.881A>C (p.His294Pro) rs2052068772
NM_006565.4(CTCF):c.952G>C (p.Gly318Arg)
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly) rs1161257134
NM_006565.4(CTCF):c.958C>T (p.Arg320Cys) rs1161257134
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser) rs2052136913

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