ClinVar Miner

Variants in gene HMGCS2 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: 7
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HGVS dbSNP
NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418
NM_005518.3(HMGCS2):c.174C>T (p.Ala58=) rs138739620
NM_005518.3(HMGCS2):c.270G>A (p.Gln90=) rs41302817
NM_005518.3(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005518.3(HMGCS2):c.73C>G (p.Pro25Ala) rs144744634
NM_005518.3(HMGCS2):c.851-14G>A rs188523700
NM_005518.3(HMGCS2):c.862C>A (p.Arg288=) rs142637231

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