ClinVar Miner

List of variants reported as likely pathogenic for Primrose syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs)
NM_001348800.3(ZBTB20):c.11+1del
NM_001348800.3(ZBTB20):c.1428_1429insGTAG (p.Leu477fs)
NM_001348800.3(ZBTB20):c.1431dup (p.Arg478fs)
NM_001348800.3(ZBTB20):c.1549_1550delinsAT (p.Ala517Met) rs2108202121
NM_001348800.3(ZBTB20):c.1727dup (p.Pro577fs) rs2108200372
NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter) rs1576280941
NM_001348800.3(ZBTB20):c.1738T>G (p.Cys580Gly)
NM_001348800.3(ZBTB20):c.1788C>G (p.His596Gln) rs752829783
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) rs777874668
NM_001348800.3(ZBTB20):c.1805G>T (p.Gly602Val)
NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu)
NM_001348800.3(ZBTB20):c.1882C>A (p.His628Asn) rs2108083606
NM_001348800.3(ZBTB20):c.1897G>A (p.Ala633Thr)
NM_001348800.3(ZBTB20):c.1948A>C (p.Asn650His)
NM_001348800.3(ZBTB20):c.348_361del (p.His118fs)
NM_001348800.3(ZBTB20):c.744C>G (p.Tyr248Ter)
NM_001348800.3(ZBTB20):c.918del (p.Glu307fs) rs2108207488

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