ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met) rs144575803 0.00050
NM_001369.3(DNAH5):c.975+6C>T rs151000177 0.00029
NM_001369.3(DNAH5):c.11320T>C (p.Ser3774Pro) rs766646786 0.00022
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr) rs151145750 0.00019
NM_001369.3(DNAH5):c.8600T>A (p.Ile2867Asn) rs572852817 0.00006
NM_001369.3(DNAH5):c.12473G>A (p.Arg4158Gln) rs376927687 0.00005
NM_001369.3(DNAH5):c.1240A>G (p.Asn414Asp) rs143391709 0.00004
NM_001369.3(DNAH5):c.7475C>T (p.Ala2492Val) rs529080443 0.00004
NM_001369.3(DNAH5):c.9128A>T (p.Asp3043Val) rs759475605 0.00003
NM_001369.3(DNAH5):c.11029G>T (p.Val3677Leu) rs2126690194
NM_001369.3(DNAH5):c.11038G>T (p.Gly3680Cys)
NM_001369.3(DNAH5):c.12152T>C (p.Met4051Thr)
NM_001369.3(DNAH5):c.12279C>T (p.Asn4093=)
NM_001369.3(DNAH5):c.464C>T (p.Ala155Val)

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