ClinVar Miner

List of variants in gene PTPN14 studied for Lymphedema-posterior choanal atresia syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005401.5(PTPN14):c.-26G>A rs10864100 0.82637
NM_005401.5(PTPN14):c.978A>G (p.Arg326=) rs7550799 0.81808
NM_005401.5(PTPN14):c.2688+26C>T rs3013451 0.81793
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=) rs1135352 0.80879
NM_005401.5(PTPN14):c.758+5T>G rs11580603 0.37482
NM_005401.5(PTPN14):c.*26G>A rs2291831 0.15689
NM_005401.5(PTPN14):c.1583C>T (p.Pro528Leu) rs141184727 0.00021
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val) rs148810458 0.00017
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr) rs138031903 0.00017
NM_005401.5(PTPN14):c.-154-42562G>A rs190109909 0.00015
NM_005401.5(PTPN14):c.2859A>G (p.Ile953Met) rs753599035 0.00006
NM_005401.5(PTPN14):c.2216C>T (p.Ala739Val) rs774165865 0.00003
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu) rs767967885 0.00001
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser) rs1435611997 0.00001
NM_005401.5(PTPN14):c.456C>G (p.Asp152Glu) rs746576679 0.00001
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter) rs1658925952 0.00001
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe) rs746314677 0.00001
NM_005401.5(PTPN14):c.*6320C>T rs1657710277
NM_005401.5(PTPN14):c.-154-22749A>G rs539475298
NM_005401.5(PTPN14):c.1754A>C (p.His585Pro)
NM_005401.5(PTPN14):c.1882C>G (p.Leu628Val)
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005401.5(PTPN14):c.929+24del rs11322819

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