List of variants reported as uncertain significance for Lymphedema-posterior choanal atresia syndrome

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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)

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