ClinVar Miner

List of variants studied for CADDS by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.153696346_153701690del
NM_001256447.2(BCAP31):c.194-2A>G rs879255569
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) rs397515620

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