ClinVar Miner

List of variants studied for Primrose syndrome

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys) rs138924453 0.00511
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu) rs144663365 0.00317
NM_001348800.3(ZBTB20):c.2199C>T (p.His733=) rs142627077 0.00179
NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]
NM_001348800.3(ZBTB20):c.1024del (p.Gln342fs)
NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs)
NM_001348800.3(ZBTB20):c.1055A>T (p.Glu352Val)
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.1613A>C (p.Gln538Pro)
NM_001348800.3(ZBTB20):c.1614G>C (p.Gln538His) rs2108201452
NM_001348800.3(ZBTB20):c.1643C>T (p.Ser548Leu)
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.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.1788C>G (p.His596Gln) rs752829783
NM_001348800.3(ZBTB20):c.1794C>G (p.Phe598Leu) rs777874668
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>A (p.Gly602Asp) rs483353068
NM_001348800.3(ZBTB20):c.1805G>C (p.Gly602Ala) rs483353068
NM_001348800.3(ZBTB20):c.1805G>T (p.Gly602Val)
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.1835G>A (p.Trp612Ter) rs2108083983
NM_001348800.3(ZBTB20):c.1837C>T (p.Arg613Cys) rs1576220876
NM_001348800.3(ZBTB20):c.1838G>T (p.Arg613Leu)
NM_001348800.3(ZBTB20):c.1845C>G (p.Phe615Leu)
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.1882C>A (p.His628Asn) rs2108083606
NM_001348800.3(ZBTB20):c.1897G>A (p.Ala633Thr)
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.1948A>C (p.Asn650His)
NM_001348800.3(ZBTB20):c.1955A>G (p.His652Arg) rs1560092224
NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)
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.348_361del (p.His118fs)
NM_001348800.3(ZBTB20):c.388C>T (p.Gln130Ter)
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs) rs1576288424
NM_001348800.3(ZBTB20):c.484G>A (p.Val162Met)
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.744C>G (p.Tyr248Ter)
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.918del (p.Glu307fs) rs2108207488
NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His)

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