ClinVar Miner

Variants in gene CHST3 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984

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