ClinVar Miner

List of variants in gene POGZ reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_015100.4(POGZ):c.1505G>A (p.Arg502Lys) rs146816269 0.00026
NM_015100.4(POGZ):c.1850G>A (p.Arg617Gln) rs72996036 0.00015
NM_015100.4(POGZ):c.2005C>T (p.His669Tyr) rs777799994 0.00012
NM_015100.4(POGZ):c.407A>G (p.Asn136Ser) rs141132016 0.00009
NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) rs926772662 0.00009
NM_015100.4(POGZ):c.3646C>T (p.His1216Tyr) rs201333468 0.00006
NM_015100.4(POGZ):c.1808C>G (p.Ser603Cys) rs753941954 0.00002
NM_015100.4(POGZ):c.3254C>T (p.Ala1085Val) rs767650742 0.00002
NM_015100.4(POGZ):c.3287A>T (p.Asp1096Val) rs1451251734 0.00001
NM_015100.4(POGZ):c.1015G>A (p.Val339Met)
NM_015100.4(POGZ):c.1079-3C>G
NM_015100.4(POGZ):c.1097T>A (p.Val366Glu)
NM_015100.4(POGZ):c.1112A>G (p.Asp371Gly) rs1557903928
NM_015100.4(POGZ):c.1186-5T>C
NM_015100.4(POGZ):c.1357C>G (p.Pro453Ala) rs1433388035
NM_015100.4(POGZ):c.1471G>A (p.Ala491Thr)
NM_015100.4(POGZ):c.1910A>G (p.His637Arg) rs1553216421
NM_015100.4(POGZ):c.1990G>A (p.Glu664Lys)
NM_015100.4(POGZ):c.2061+4_2061+5del rs749025678
NM_015100.4(POGZ):c.2071C>T (p.Arg691Trp)
NM_015100.4(POGZ):c.2101C>G (p.Pro701Ala) rs1557873361
NM_015100.4(POGZ):c.2161T>C (p.Ser721Pro)
NM_015100.4(POGZ):c.2224G>A (p.Val742Ile)
NM_015100.4(POGZ):c.2426C>A (p.Ser809Tyr)
NM_015100.4(POGZ):c.2459G>A (p.Cys820Tyr) rs1557870105
NM_015100.4(POGZ):c.2467G>C (p.Val823Leu)
NM_015100.4(POGZ):c.2488A>G (p.Met830Val)
NM_015100.4(POGZ):c.2504T>G (p.Val835Gly)
NM_015100.4(POGZ):c.2648A>G (p.Lys883Arg)
NM_015100.4(POGZ):c.2699T>G (p.Leu900Arg)
NM_015100.4(POGZ):c.2729C>T (p.Ser910Leu)
NM_015100.4(POGZ):c.2812G>A (p.Glu938Lys)
NM_015100.4(POGZ):c.2968G>C (p.Glu990Gln)
NM_015100.4(POGZ):c.2989C>G (p.Arg997Gly)
NM_015100.4(POGZ):c.3032A>G (p.Gln1011Arg)
NM_015100.4(POGZ):c.307G>A (p.Gly103Ser)
NM_015100.4(POGZ):c.3337C>G (p.His1113Asp)
NM_015100.4(POGZ):c.3629C>T (p.Thr1210Ile)
NM_015100.4(POGZ):c.3862G>T (p.Ala1288Ser)
NM_015100.4(POGZ):c.3863C>A (p.Ala1288Glu)
NM_015100.4(POGZ):c.3907G>T (p.Val1303Phe) rs1557863070
NM_015100.4(POGZ):c.4017_4019del (p.Thr1340del)
NM_015100.4(POGZ):c.4026T>G (p.Asn1342Lys)
NM_015100.4(POGZ):c.4103C>A (p.Thr1368Asn)
NM_015100.4(POGZ):c.4103_4104inv (p.Thr1368Lys)
NM_015100.4(POGZ):c.4154A>G (p.His1385Arg) rs1557861908
NM_015100.4(POGZ):c.4165G>C (p.Glu1389Gln)
NM_015100.4(POGZ):c.649A>G (p.Thr217Ala)
NM_015100.4(POGZ):c.649A>T (p.Thr217Ser)
NM_015100.4(POGZ):c.650C>T (p.Thr217Ile)
NM_015100.4(POGZ):c.652A>G (p.Met218Val)
NM_015100.4(POGZ):c.799C>A (p.Leu267Met)
NM_015100.4(POGZ):c.892A>G (p.Ile298Val)
NM_015100.4(POGZ):c.915G>C (p.Lys305Asn)
NM_015100.4(POGZ):c.982C>A (p.Pro328Thr)

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