ClinVar Miner

List of variants reported as pathogenic for Tenorio syndrome

Included ClinVar conditions (1):

Tenorio syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)	rs373764886	0.00001
NM_017831.4(RNF125):c.520C>T (p.Arg174Cys)	rs370242930	0.00001
NM_017831.4(RNF125):c.336G>A (p.Met112Ile)	rs786201014

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