ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000232.5(SGCB):c.*1105A>G rs77404139 0.01061
NM_000232.5(SGCB):c.*724C>T rs79282232 0.00971
NM_000232.5(SGCB):c.*2907T>C rs138349341 0.00486
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00039
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000232.5(SGCB):c.111C>T (p.Asn37=) rs2109376000
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942

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