ClinVar Miner

List of variants in gene MCIDAS reported as uncertain significance for ciliary dyskinesia, primary, 42

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001190787.3(MCIDAS):c.120+3G>A rs186341559 0.00332
NM_001190787.3(MCIDAS):c.1040C>T (p.Ser347Phe) rs561481156 0.00022
NM_001190787.3(MCIDAS):c.120+2dup
NM_001190787.3(MCIDAS):c.121-19C>A rs181955833
NM_001190787.3(MCIDAS):c.382G>A (p.Asp128Asn)

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