List of variants reported as likely benign for capillary malformation by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)	rs144456901	0.00113
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser)	rs140271276	0.00031
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)	rs151296940	0.00024
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)	rs375679140	0.00021
NM_016204.4(GDF2):c.1290G>A (p.Ter430=)	rs139568056	0.00021
NM_001114753.3(ENG):c.1134+9A>T	rs200780733	0.00018
NM_001114753.3(ENG):c.-98G>A	rs923040659	0.00006
NM_001114753.3(ENG):c.689+17G>A	rs773103359	0.00005
NM_000020.3(ACVRL1):c.1377+785G>A	rs568206326	0.00003
NM_001114753.3(ENG):c.1428+127G>A	rs761685402	0.00003
NM_001114753.3(ENG):c.524-13C>T	rs756926952	0.00003
NM_000020.3(ACVRL1):c.1378-417C>T	rs1038380207	0.00002
NM_000020.3(ACVRL1):c.1378-368T>C	rs1940945149	0.00001
NM_001114753.3(ENG):c.1742-28C>T	rs752832223	0.00001
NM_016204.4(GDF2):c.714C>T (p.Asp238=)	rs782288867	0.00001
NM_000020.3(ACVRL1):c.*45del	rs761647766
NM_000020.3(ACVRL1):c.1377+55T>C
NM_001114753.3(ENG):c.1290G>T (p.Leu430=)	rs377321205
NM_001114753.3(ENG):c.1852+36G>T	rs1588572388
NM_001114753.3(ENG):c.1853-14GCTCCC[3]	rs373296026
NM_001114753.3(ENG):c.1977G>A (p.Ter659=)	rs1337723089
NM_001114753.3(ENG):c.618C>A (p.Gly206=)	rs1830599217
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)	rs549031631
NM_016204.4(GDF2):c.740G>C (p.Gly247Ala)	rs369219783

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