ClinVar Miner

List of variants reported as pathogenic for Kartagener syndrome

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.48+2dup rs397515363 0.00050
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099 0.00006
NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) rs587778819 0.00004
NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) rs794727103 0.00003
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser) rs79833450 0.00003
NC_000008.11:g.100151617_100163589del
NM_001010892.3(RSPH4A):c.921+3_921+6del rs869320683
NM_012144.4(DNAI1):c.1188del (p.Tyr397fs) rs1060503515
NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del) rs606231165
NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs) rs606231164
NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer) rs1405276816
NM_145045.5(ODAD3):c.1166_1169dup (p.Leu391fs) rs1969172237

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