ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)

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