ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 10

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Total variants: 90
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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.982G>A (p.Asp328Asn) rs201566715 0.00054
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.1129G>C (p.Gly377Arg) rs760933549 0.00025
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.1969C>T (p.Leu657Phe) rs187863107 0.00008
NM_018139.3(DNAAF2):c.416A>G (p.Tyr139Cys) rs761527467 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.1115G>A (p.Arg372Gln) rs753893107 0.00004
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.404G>A (p.Ser135Asn) rs759580456 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.1510C>T (p.Gln504Ter) rs748693944 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.2428C>T (p.Gln810Ter) rs747290752 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.1054_1087del (p.Ala352fs) rs2502768785
NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3]) rs962923283
NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly) rs758481481
NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=) rs1227922342
NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly) rs967364703
NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs) rs902156961
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs) rs397515341
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.156C>A (p.Tyr52Ter) rs2139584419
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) rs374369407
NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter) rs2502765926
NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer) rs752488141
NM_018139.3(DNAAF2):c.209T>C (p.Val70Ala)
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter) rs137853191
NM_018139.3(DNAAF2):c.26C>A (p.Ser9Ter) rs867153082
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del) rs2139583907
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.476dup (p.Phe160fs) rs767450283
NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln) rs755978191
NM_018139.3(DNAAF2):c.751dup (p.Thr251fs) rs2502770144
NM_018139.3(DNAAF2):c.843T>A (p.His281Gln) rs753291588
NM_018139.3(DNAAF2):c.864A>G (p.Glu288=) rs1883265471

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