ClinVar Miner

List of variants in gene ZBTB24 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter) rs387907104 0.00003
NM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly) rs387907105 0.00002
NM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter) rs370370334 0.00002
NM_014797.3(ZBTB24):c.1192C>T (p.Arg398Ter) rs867580676 0.00001
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter) rs387907106 0.00001
NM_014797.3(ZBTB24):c.1118C>G (p.Ser373Ter) rs1213180923
NM_014797.3(ZBTB24):c.1125_1135del (p.Gln375fs)
NM_014797.3(ZBTB24):c.1161del (p.Phe387fs)
NM_014797.3(ZBTB24):c.1272_1281del (p.Leu425fs)
NM_014797.3(ZBTB24):c.1439dup (p.His480fs)
NM_014797.3(ZBTB24):c.226_227del (p.Ile76fs)
NM_014797.3(ZBTB24):c.350_351del (p.Lys117fs)
NM_014797.3(ZBTB24):c.377_378del (p.Thr126fs)
NM_014797.3(ZBTB24):c.389del (p.Asn130fs)
NM_014797.3(ZBTB24):c.396_397del (p.His132fs) rs1562305058
NM_014797.3(ZBTB24):c.431del (p.Gly144fs)
NM_014797.3(ZBTB24):c.44_50del (p.His15fs)
NM_014797.3(ZBTB24):c.501dup (p.Val168fs) rs780371205
NM_014797.3(ZBTB24):c.593_594del (p.Phe198fs)
NM_014797.3(ZBTB24):c.658G>T (p.Glu220Ter)
NM_014797.3(ZBTB24):c.787A>T (p.Lys263Ter)
NM_014797.3(ZBTB24):c.795dup (p.Asp266fs)
NM_014797.3(ZBTB24):c.825_844del (p.His276fs)
NM_014797.3(ZBTB24):c.833C>G (p.Ser278Ter) rs1582683374
NM_014797.3(ZBTB24):c.868_875dup (p.Arg295fs)
NM_014797.3(ZBTB24):c.888dup (p.Lys297Ter) rs1776399868
NM_014797.3(ZBTB24):c.909dup (p.Lys304Ter) rs770082593
NM_014797.3(ZBTB24):c.911_914del (p.Lys304fs)
NM_014797.3(ZBTB24):c.953-2A>G
NM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)
NM_014797.3(ZBTB24):c.993del (p.Phe331fs)
NM_014797.3(ZBTB24):c.997C>T (p.Gln333Ter)

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