ClinVar Miner

List of variants studied for cardiospondylocarpofacial syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_145331.3(MAP3K7):c.124G>T (p.Val42Phe)
NM_145331.3(MAP3K7):c.512T>C (p.Leu171Pro)
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)

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