ClinVar Miner

List of variants in gene GDF2 reported as uncertain significance for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NC_000010.10:g.(?_48413558)_(48416713_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)del
NC_000010.10:g.(?_48413568)_(48416703_?)dup
NM_016204.4(GDF2):c.1023G>C (p.Trp341Cys) rs1555209063
NM_016204.4(GDF2):c.1040C>T (p.Ala347Val) rs782452633
NM_016204.4(GDF2):c.1063G>A (p.Glu355Lys) rs1200646207
NM_016204.4(GDF2):c.1075G>A (p.Gly359Ser)
NM_016204.4(GDF2):c.1207G>A (p.Val403Ile)
NM_016204.4(GDF2):c.1255G>A (p.Glu419Lys) rs782137039
NM_016204.4(GDF2):c.1267G>A (p.Val423Met) rs1358534877
NM_016204.4(GDF2):c.203G>A (p.Arg68His) rs200330818
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu)
NM_016204.4(GDF2):c.252G>A (p.Glu84=)
NM_016204.4(GDF2):c.286T>C (p.Tyr96His) rs142466901
NM_016204.4(GDF2):c.314C>T (p.Ala105Val)
NM_016204.4(GDF2):c.348T>C (p.Asp116=)
NM_016204.4(GDF2):c.619G>T (p.Val207Leu) rs148262680
NM_016204.4(GDF2):c.637C>T (p.Arg213Cys) rs1555208917
NM_016204.4(GDF2):c.646C>T (p.Arg216Trp)
NM_016204.4(GDF2):c.64G>A (p.Gly22Arg) rs1555208692
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.847G>A (p.Val283Met) rs138904328
NM_016204.4(GDF2):c.871G>A (p.Gly291Ser) rs201711410
NM_016204.4(GDF2):c.89G>A (p.Arg30Gln)
NM_016204.4(GDF2):c.89G>C (p.Arg30Pro) rs368827442
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.930G>A (p.Ala310=)
NM_016204.4(GDF2):c.949C>T (p.Arg317Trp) rs559992144
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080

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