ClinVar Miner

List of variants in gene GDF2 reported as likely benign for capillary malformation

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_016204.4(GDF2):c.1005C>T (p.Asn335=)
NM_016204.4(GDF2):c.1008C>T (p.Phe336=) rs1041318325
NM_016204.4(GDF2):c.1068T>C (p.Cys356=) rs781876898
NM_016204.4(GDF2):c.1098C>T (p.Asp366=) rs781981224
NM_016204.4(GDF2):c.1101T>C (p.Asp367=)
NM_016204.4(GDF2):c.1104G>A (p.Val368=)
NM_016204.4(GDF2):c.1112C>T (p.Thr371Met) rs782198119
NM_016204.4(GDF2):c.1125C>A (p.Ile375=)
NM_016204.4(GDF2):c.1266C>T (p.Ser422=)
NM_016204.4(GDF2):c.126G>A (p.Gly42=)
NM_016204.4(GDF2):c.1281G>T (p.Gly427=) rs781842184
NM_016204.4(GDF2):c.1290G>A (p.Ter430=) rs139568056
NM_016204.4(GDF2):c.18G>A (p.Leu6=)
NM_016204.4(GDF2):c.198C>T (p.Phe66=)
NM_016204.4(GDF2):c.303G>A (p.Ser101=)
NM_016204.4(GDF2):c.315G>A (p.Ala105=)
NM_016204.4(GDF2):c.326T>C (p.Val109Ala) rs782118500
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe)
NM_016204.4(GDF2):c.40_48dup (p.Ser14_Leu16dup)
NM_016204.4(GDF2):c.478G>A (p.Val160Met) rs144705412
NM_016204.4(GDF2):c.654C>T (p.Asp218=)
NM_016204.4(GDF2):c.69G>A (p.Lys23=)
NM_016204.4(GDF2):c.69G>T (p.Lys23Asn)
NM_016204.4(GDF2):c.711C>T (p.Cys237=) rs146775536
NM_016204.4(GDF2):c.714C>T (p.Asp238=) rs782288867
NM_016204.4(GDF2):c.732C>T (p.Val244=) rs145385373
NM_016204.4(GDF2):c.774C>T (p.Ser258=)
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.792G>C (p.Gly264=) rs781907754
NM_016204.4(GDF2):c.900C>T (p.His300=)
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016204.4(GDF2):c.933G>A (p.Gly311=)
NM_016204.4(GDF2):c.936G>A (p.Ser312=)
NM_016204.4(GDF2):c.963C>A (p.Ala321=) rs370309301
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734

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