List of variants reported as uncertain significance for Primrose syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001348800.3(ZBTB20):c.1055A>T (p.Glu352Val)
NM_001348800.3(ZBTB20):c.1614G>C (p.Gln538His)	rs2108201452
NM_001348800.3(ZBTB20):c.1643C>T (p.Ser548Leu)
NM_001348800.3(ZBTB20):c.1805G>A (p.Gly602Asp)	rs483353068
NM_001348800.3(ZBTB20):c.1835G>A (p.Trp612Ter)	rs2108083983
NM_001348800.3(ZBTB20):c.1845C>G (p.Phe615Leu)
NM_001348800.3(ZBTB20):c.2075dup (p.Ala693fs)	rs777745612
NM_001348800.3(ZBTB20):c.2090C>T (p.Pro697Leu)
NM_001348800.3(ZBTB20):c.2114G>T (p.Gly705Val)	rs2108081749
NM_001348800.3(ZBTB20):c.584A>G (p.Gln195Arg)	rs2108210634
NM_001348800.3(ZBTB20):c.598G>T (p.Val200Leu)
NM_001348800.3(ZBTB20):c.641G>A (p.Gly214Asp)	rs2080663841
NM_001348800.3(ZBTB20):c.745G>A (p.Ala249Thr)	rs2080653424
NM_001348800.3(ZBTB20):c.755T>C (p.Met252Thr)	rs2080651935
NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His)

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