ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.-5-59C>T rs563686436
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
NM_000020.3(ACVRL1):c.1377+4A>T
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000118.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_000118.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066
NM_000118.3(ENG):c.219+23G>A rs200726108
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.694C>T (p.Arg232Trp) rs200372420
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)
NM_001114753.3(ENG):c.1429-8C>G
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)

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