ClinVar Miner

List of variants studied for partial monosomy of the long arm of chromosome 9 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly) rs142217951 0.00004
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val) rs878853271 0.00003

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