ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 10 by Illumina Laboratory Services, Illumina

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=) rs2985686 0.70870
NM_018139.3(DNAAF2):c.*328A>T rs12160 0.69631
NM_018139.3(DNAAF2):c.498C>T (p.Ala166=) rs2985685 0.65889
NM_018139.3(DNAAF2):c.1482A>G (p.Thr494=) rs2985687 0.65543
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.64935
NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly) rs9989177 0.40851
NM_018139.3(DNAAF2):c.*126T>A rs8952 0.26193
NM_018139.3(DNAAF2):c.-79C>T rs78309551 0.02003
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01349
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=) rs7156297 0.01255
NM_018139.3(DNAAF2):c.144C>A (p.Asn48Lys) rs116185352 0.01062
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_018139.3(DNAAF2):c.1626G>C (p.Arg542=) rs35763780 0.00645
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935 0.00596
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00495
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00232
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00212
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala) rs80237479 0.00088
NM_018139.3(DNAAF2):c.731C>A (p.Ala244Glu) rs112700048 0.00068
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys) rs144077436 0.00067
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00060
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr) rs549457480 0.00056
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00051
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00045
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp) rs200327783 0.00044
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00023
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser) rs776126134 0.00023
NM_018139.3(DNAAF2):c.332G>C (p.Arg111Pro) rs549781788 0.00019
NM_018139.3(DNAAF2):c.1687G>T (p.Ala563Ser) rs138511448 0.00016
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590 0.00016
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val) rs200291432 0.00014
NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His) rs371126037 0.00011
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val) rs181040532 0.00011
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly) rs367597118 0.00008
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=) rs370699646 0.00007
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=) rs200484042 0.00007
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val) rs754858452 0.00006
NM_018139.3(DNAAF2):c.270G>C (p.Val90=) rs767758073 0.00005
NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg) rs886050527 0.00003
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile) rs185938951 0.00003
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met) rs185361306 0.00003
NM_018139.3(DNAAF2):c.-4C>G rs528847072 0.00002
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp) rs201615253 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu) rs763643131 0.00002
NM_018139.3(DNAAF2):c.*157A>G rs1010007979 0.00001
NM_018139.3(DNAAF2):c.*191A>G rs886050525 0.00001
NM_018139.3(DNAAF2):c.1070C>T (p.Pro357Leu) rs1389972313 0.00001
NM_018139.3(DNAAF2):c.1147G>A (p.Ala383Thr) rs1176186096 0.00001
NM_018139.3(DNAAF2):c.1502C>T (p.Thr501Met) rs375822050 0.00001
NM_018139.3(DNAAF2):c.1825A>G (p.Arg609Gly) rs768172147 0.00001
NM_018139.3(DNAAF2):c.196G>A (p.Glu66Lys) rs779375480 0.00001
NM_018139.3(DNAAF2):c.2053A>G (p.Arg685Gly) rs753870133 0.00001
NM_018139.3(DNAAF2):c.471C>T (p.His157=) rs886050528 0.00001
NM_018139.3(DNAAF2):c.*213A>G rs1882971555
NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly) rs758481481
NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly) rs967364703
NM_018139.3(DNAAF2):c.1215T>G (p.Ala405=) rs886050526
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg) rs145008882
NM_018139.3(DNAAF2):c.1568C>T (p.Pro523Leu) rs199957238
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) rs374369407
NM_018139.3(DNAAF2):c.387C>G (p.Arg129=) rs886050529
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg) rs541232616
NM_018139.3(DNAAF2):c.864A>G (p.Glu288=) rs1883265471

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