ClinVar Miner

List of variants studied for primary ciliary dyskinesia 25 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_130810.4(DNAAF4):c.4C>T (p.Pro2Ser) rs143493699 0.00075
NM_130810.4(DNAAF4):c.454C>T (p.Arg152Trp) rs201132774 0.00022
NM_130810.4(DNAAF4):c.246G>C (p.Met82Ile) rs1028632064 0.00002
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter) rs397515621 0.00001
NM_130810.4(DNAAF4):c.523del (p.Ile175fs) rs751610886

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