ClinVar Miner

List of variants reported as pathogenic for Primrose syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]
NM_001348800.3(ZBTB20):c.1024del (p.Gln342fs)
NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys) rs1576280892
NM_001348800.3(ZBTB20):c.1768A>C (p.Lys590Gln) rs483353064
NM_001348800.3(ZBTB20):c.1771C>G (p.Gln591Glu) rs483353065
NM_001348800.3(ZBTB20):c.1786C>T (p.His596Tyr) rs1057519435
NM_001348800.3(ZBTB20):c.1787A>G (p.His596Arg) rs483353066
NM_001348800.3(ZBTB20):c.1800C>G (p.His600Gln) rs1560110565
NM_001348800.3(ZBTB20):c.1802C>T (p.Thr601Ile) rs483353067
NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala) rs483353068
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro) rs1576220938
NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg) rs1576220938
NM_001348800.3(ZBTB20):c.1822T>C (p.Cys608Arg) rs1560092633
NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys) rs1576220876
NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe) rs483353070
NM_001348800.3(ZBTB20):c.1862T>C (p.Leu621Pro) rs1576220750
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val) rs1064795382
NM_001348800.3(ZBTB20):c.1876G>A (p.Val626Met) rs483353063
NM_001348800.3(ZBTB20):c.1916G>A (p.Cys639Tyr) rs2079589483
NM_001348800.3(ZBTB20):c.1916G>T (p.Cys639Phe) rs2079589483
NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)
NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg) rs1576220405
NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg) rs1560092224
NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)
NM_001348800.3(ZBTB20):c.388C>T (p.Gln130Ter)
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs) rs1576288424

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