ClinVar Miner

List of variants studied for Ogden syndrome by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys) rs797044868
NM_003491.4(NAA10):c.319G>T (p.Val107Phe) rs587780562
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp) rs587780563
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile) rs878853264
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu) rs878853263

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