ClinVar Miner

List of variants reported as uncertain significance for asphyxiating thoracic dystrophy 3 by Reproductive Health Research and Development, BGI Genomics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter) rs202111347 0.00019
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018

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