ClinVar Miner

List of variants studied for short-rib thoracic dysplasia 6 with or without polydactyly by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694

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