ClinVar Miner

Variants in gene EXT2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)

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