ClinVar Miner

List of variants studied for Lymphedema-posterior choanal atresia syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_005401.5(PTPN14):c.-154-42562G>A	rs190109909	0.00015
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)	rs1658925952	0.00001
NM_005401.5(PTPN14):c.*6320C>T	rs1657710277
NM_005401.5(PTPN14):c.-154-22749A>G	rs539475298

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