ClinVar Miner

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

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter) rs1657533128
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
NM_015100.4(POGZ):c.1524-3C>G rs367963956
NM_015100.4(POGZ):c.1679-3C>G rs376091120
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro) rs1057519392
NM_015100.4(POGZ):c.1748A>G (p.His583Arg) rs1131692270
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
NM_015100.4(POGZ):c.1A>G (p.Met1Val) rs2102371063
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs) rs1654056152
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs) rs2102164714
NM_015100.4(POGZ):c.2400dup (p.Lys801fs) rs1653809027
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs) rs1653807656
NM_015100.4(POGZ):c.2433-1G>C
NM_015100.4(POGZ):c.2469del (p.Thr824fs) rs1653766307
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
NM_015100.4(POGZ):c.2520_2521del (p.His840fs) rs886042027
NM_015100.4(POGZ):c.2545+1del rs1571332089
NM_015100.4(POGZ):c.2545+2del rs2102155019
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly) rs2102152736
NM_015100.4(POGZ):c.2574del (p.His858fs) rs1653647344
NM_015100.4(POGZ):c.2604del (p.Asn869fs) rs1553213126
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
NM_015100.4(POGZ):c.2836del (p.Asp946fs) rs1571326296
NM_015100.4(POGZ):c.2849dup (p.Val951fs) rs1653560615
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter) rs1553212545
NM_015100.4(POGZ):c.3041del (p.Gln1014fs) rs796052217
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp) rs1653514334
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs) rs1653497680
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer) rs1553212374
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs) rs2102145038
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter) rs773311942
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs) rs869320764
NM_015100.4(POGZ):c.402_409dup (p.His137fs) rs1057518799
NM_015100.4(POGZ):c.62del (p.Ile21fs) rs1660633733
NM_015100.4(POGZ):c.64del (p.Ser22fs) rs2102370816
NM_015100.4(POGZ):c.692del (p.Ile231fs) rs1658105150
NM_015100.4(POGZ):c.7del (p.Asp3fs)

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