ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 19 by Illumina Laboratory Services, Illumina

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_012472.6(DNAAF11):c.609C>T (p.Asn203=) rs35956157 0.01575
NM_012472.6(DNAAF11):c.*239T>C rs116329113 0.00799
NM_012472.6(DNAAF11):c.1343T>C (p.Ile448Thr) rs78620801 0.00149
NM_012472.6(DNAAF11):c.*179A>G rs549691657 0.00133
NM_012472.6(DNAAF11):c.*193A>G rs139222648 0.00100
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00074
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00052
NM_012472.6(DNAAF11):c.131G>A (p.Arg44Gln) rs184555568 0.00047
NM_012472.6(DNAAF11):c.*73A>T rs115309048 0.00042
NM_012472.6(DNAAF11):c.1096A>G (p.Lys366Glu) rs201309011 0.00036
NM_012472.6(DNAAF11):c.*5T>G rs144068846 0.00034
NM_012472.6(DNAAF11):c.*63C>A rs559073925 0.00024
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_012472.6(DNAAF11):c.1109C>G (p.Thr370Arg) rs148424037 0.00016
NM_012472.6(DNAAF11):c.611C>T (p.Ala204Val) rs376633613 0.00013
NM_012472.6(DNAAF11):c.27T>G (p.Ile9Met) rs200906172 0.00009
NM_012472.6(DNAAF11):c.299T>C (p.Ile100Thr) rs139008774 0.00009
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_012472.6(DNAAF11):c.1300G>A (p.Glu434Lys) rs886062700 0.00002
NM_012472.6(DNAAF11):c.1044+12C>A rs564023548 0.00001
NM_012472.6(DNAAF11):c.1178A>G (p.Lys393Arg) rs776429452 0.00001
NM_012472.6(DNAAF11):c.49G>A (p.Asp17Asn) rs911389891 0.00001
NM_012472.6(DNAAF11):c.*197C>G rs1814250341
NM_012472.6(DNAAF11):c.*32C>A rs1814269845
NM_012472.6(DNAAF11):c.*68T>G rs374717230
NM_012472.6(DNAAF11):c.1223C>G (p.Thr408Arg) rs1815572688
NM_012472.6(DNAAF11):c.234T>G (p.Ile78Met) rs749435096
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265

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