ClinVar Miner

List of variants in gene SGCG reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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