List of variants reported as pathogenic for Multiple cutaneous and mucosal venous malformations by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)	rs80338908	0.00001
NM_000459.5(TEK):c.2689T>A (p.Tyr897Asn)	rs2131227936
NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys)	rs80338909
NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter)	rs1826418572
NM_000459.5(TEK):c.3324T>A (p.Tyr1108Ter)	rs1826462356
NM_000459.5(TEK):c.3343G>T (p.Gly1115Ter)	rs1826463406

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