ClinVar Miner

List of variants in gene DNAI1 reported as benign for Primary ciliary dyskinesia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile) rs11793196 0.20136
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly) rs11999454 0.02853
NM_012144.4(DNAI1):c.378A>G (p.Glu126=) rs3818577 0.02063
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_012144.4(DNAI1):c.978A>C (p.Gln326His) rs16931555 0.01063
NM_012144.4(DNAI1):c.1401+17G>A rs138412741 0.00752
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val) rs16931549 0.00609
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn) rs76334696 0.00575
NM_012144.4(DNAI1):c.639G>A (p.Thr213=) rs78865254 0.00320
NM_012144.4(DNAI1):c.2001+19T>A rs144066349 0.00260
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00189
NM_012144.4(DNAI1):c.1902C>T (p.His634=) rs139197229 0.00156
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=) rs146244319 0.00063
NM_012144.4(DNAI1):c.1923C>T (p.His641=) rs145218397 0.00056
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_012144.4(DNAI1):c.1401+7A>G rs370745702 0.00017
NM_012144.4(DNAI1):c.1417A>G (p.Ile473Val) rs199774301 0.00006
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser) rs182015909 0.00003
NM_012144.4(DNAI1):c.81+20T>C rs572257884 0.00001
NM_012144.4(DNAI1):c.1020-5del rs745344346
NM_012144.4(DNAI1):c.1020-5dup rs745344346
NM_012144.4(DNAI1):c.1312-13del rs2492114644
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser) rs11547035
NM_012144.4(DNAI1):c.262-12del rs572785591
NM_012144.4(DNAI1):c.49-16del rs1824412769

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