ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 32 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_031924.8(RSPH3):c.205-2A>G rs142800871 0.00002
NM_031924.8(RSPH3):c.190C>T (p.Gln64Ter) rs796052117
NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter) rs796052119
NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter) rs796052118
NM_031924.8(RSPH3):c.894_897del (p.Asn298fs) rs875989825

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