List of variants reported as pathogenic for Primrose syndrome by OMIM

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Total variants: 11

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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.1768A>C (p.Lys590Gln)	rs483353064
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.1805G>C (p.Gly602Ala)	rs483353068
NM_001348800.3(ZBTB20):c.1822T>C (p.Cys608Arg)	rs1560092633
NM_001348800.3(ZBTB20):c.1861C>T (p.Leu621Phe)	rs483353070
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)	rs1064795382
NM_001348800.3(ZBTB20):c.1931C>T (p.Thr644Ile)
NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)

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