ClinVar Miner

List of variants studied for CADDS by Baylor Genetics

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
GRCh37/hg19 Xq28(chrX:152980470-153032459)
NM_001256447.2(BCAP31):c.-44-270C>A rs1057518721
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu) rs782648908

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