ClinVar Miner

List of variants in gene ZBTB18 reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
NM_205768.3(ZBTB18):c.1142_1146delinsAACCCT (p.Cys381_Pro382delinsTer)
NM_205768.3(ZBTB18):c.1143C>A (p.Cys381Ter) rs1698428230
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter) rs875989786
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) rs2148557361
NM_205768.3(ZBTB18):c.133C>T (p.Arg45Ter) rs1085307109
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.1390C>T (p.Arg464Cys) rs750922282
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg) rs2148557675
NM_205768.3(ZBTB18):c.142C>T (p.Arg48Ter) rs1135401770
NM_205768.3(ZBTB18):c.1444C>T (p.Arg482Cys) rs1553270634
NM_205768.3(ZBTB18):c.397G>T (p.Glu133Ter) rs398122406
NM_205768.3(ZBTB18):c.550del (p.Asp184fs) rs2148556437
NM_205768.3(ZBTB18):c.579G>A (p.Trp193Ter) rs2148556497
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter) rs1064792999
NM_205768.3(ZBTB18):c.599del (p.Asp199_Ser200insTer) rs1060499655
NM_205768.3(ZBTB18):c.691_692del (p.Leu231fs)
NM_205768.3(ZBTB18):c.753_754del (p.Ser252fs) rs1698415634
NM_205768.3(ZBTB18):c.943_944del (p.Arg315fs) rs1085307108
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs) rs1572531281

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