ClinVar Miner

List of variants reported as likely pathogenic for lymphedema-distichiasis syndrome

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005251.2(FOXC2):c.(?_1)_(1506_?)del
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs)
NM_005251.3(FOXC2):c.1221del (p.Gln407fs) rs2144020781
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) rs1974216738
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) rs1597402936

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