ClinVar Miner

List of variants reported as likely pathogenic for Kartagener syndrome

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Total variants: 8
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NM_001369.2(DNAH5):c.4530del (p.Asn1511fs) rs1554082275
NM_001369.2(DNAH5):c.6000C>A (p.Tyr2000Ter) rs773208371
NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe) rs11793196
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_012144.4(DNAI1):c.389-1G>C rs200488444
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_017950.4(CCDC40):c.1989+1G>A rs745993158

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