ClinVar Miner

List of variants studied for Tenorio syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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