ClinVar Miner

Variants in gene ROGDI 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: 9
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001

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