ClinVar Miner

List of variants studied for primary ciliary dyskinesia 11 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_001010892.3(RSPH4A):c.1351C>T (p.Gln451Ter) rs750528020 0.00005
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro) rs755128358 0.00005
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732 0.00003
NM_001010892.3(RSPH4A):c.1270del (p.Thr424fs) rs397518456
NM_001010892.3(RSPH4A):c.1662+2_1662+5del rs768986129
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683

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