ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 11 by Centogene AG - the Rare Disease Company

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly)	rs747419302	0.00003
NM_001010892.3(RSPH4A):c.921+3_921+6del	rs869320683

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