ClinVar Miner

Variants in gene VCAN 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: 13
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HGVS dbSNP gnomAD frequency
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_004385.5(VCAN):c.1931C>T (p.Pro644Leu) rs148104757 0.00051
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00032
NM_004385.5(VCAN):c.2234A>C (p.Lys745Thr) rs144502710 0.00018
NM_004385.5(VCAN):c.6322C>G (p.Gln2108Glu) rs62364883 0.00017
NM_004385.5(VCAN):c.221A>G (p.Asn74Ser) rs144766017 0.00016
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214 0.00016
NM_004385.5(VCAN):c.1369G>A (p.Glu457Lys) rs145029761 0.00015
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val) rs147798761 0.00015
NM_004385.5(VCAN):c.2542G>A (p.Glu848Lys) rs188853533 0.00009
NM_004385.5(VCAN):c.5902C>G (p.Gln1968Glu) rs775630677 0.00001
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278

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