ClinVar Miner

List of variants studied for DNA repair disease by Cowan and Puck Lab, Allergy Immunology and BMT Division, UCSF Benioff Children's Hospital

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000010.10:g.14983601_15065700del
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)

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