ClinVar Miner

List of variants reported as likely benign for capillary malformation by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1712G>A (p.Arg571His) rs138799379
NM_000118.3(ENG):c.388C>T (p.Pro130Ser) rs199840979
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp)
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly)
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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