ClinVar Miner

List of variants in gene SGCA reported as uncertain significance by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329

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