ClinVar Miner

List of variants reported as uncertain significance for Cowden syndrome 7 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_006363.6(SEC23B):c.1043A>G (p.Asp348Gly)
NM_006363.6(SEC23B):c.1233+4C>T rs201883785
NM_006363.6(SEC23B):c.1665+6T>C rs371786580
NM_006363.6(SEC23B):c.2129C>T (p.Thr710Met) rs752664090
NM_006363.6(SEC23B):c.221+3A>G
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) rs201160833
NM_006363.6(SEC23B):c.890C>T (p.Thr297Ile) rs1363436677
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser) rs143417821

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