ClinVar Miner

List of variants in gene DNAAF2 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 360
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HGVS dbSNP gnomAD frequency
NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) rs2985684 0.65918
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.-79C>T rs78309551 0.02003
NM_018139.3(DNAAF2):c.1863+16A>G rs60822508 0.01613
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01450
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.728A>C (p.Glu243Ala) rs112044935 0.00642
NM_018139.3(DNAAF2):c.1494G>A (p.Ser498=) rs2985688 0.00470
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00410
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00223
NM_018139.3(DNAAF2):c.1459C>T (p.Arg487Cys) rs141192321 0.00112
NM_018139.3(DNAAF2):c.2187A>G (p.Gln729=) rs147110554 0.00097
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.423C>T (p.Val141=) rs373251065 0.00061
NM_018139.3(DNAAF2):c.982G>A (p.Asp328Asn) rs201566715 0.00061
NM_018139.3(DNAAF2):c.263G>A (p.Cys88Tyr) rs549457480 0.00056
NM_018139.3(DNAAF2):c.1463G>A (p.Gly488Glu) rs200121200 0.00052
NM_018139.3(DNAAF2):c.1595A>G (p.Glu532Gly) rs143210369 0.00052
NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys) rs144077436 0.00049
NM_018139.3(DNAAF2):c.58G>C (p.Val20Leu) rs572322476 0.00045
NM_018139.3(DNAAF2):c.1417C>T (p.Arg473Trp) rs200327783 0.00044
NM_018139.3(DNAAF2):c.1785G>A (p.Val595=) rs141689467 0.00040
NM_018139.3(DNAAF2):c.2281A>G (p.Thr761Ala) rs148936584 0.00038
NM_018139.3(DNAAF2):c.972C>T (p.Tyr324=) rs370818914 0.00024
NM_018139.3(DNAAF2):c.700C>T (p.Pro234Ser) rs776126134 0.00023
NM_018139.3(DNAAF2):c.129C>T (p.Leu43=) rs567371975 0.00019
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.417C>T (p.Tyr139=) rs776421647 0.00016
NM_018139.3(DNAAF2):c.824C>T (p.Ala275Val) rs200291432 0.00014
NM_018139.3(DNAAF2):c.1468A>G (p.Ser490Gly) rs367597118 0.00009
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.847C>G (p.Leu283Val) rs201544590 0.00008
NM_018139.3(DNAAF2):c.1401C>T (p.Ser467=) rs368961585 0.00007
NM_018139.3(DNAAF2):c.1719A>G (p.Gln573=) rs370699646 0.00007
NM_018139.3(DNAAF2):c.2191G>C (p.Glu731Gln) rs777882844 0.00007
NM_018139.3(DNAAF2):c.2440G>T (p.Val814Leu) rs749029870 0.00007
NM_018139.3(DNAAF2):c.384C>A (p.Gly128=) rs200484042 0.00007
NM_018139.3(DNAAF2):c.1053G>C (p.Pro351=) rs780614468 0.00006
NM_018139.3(DNAAF2):c.1781C>T (p.Ala594Val) rs181040532 0.00006
NM_018139.3(DNAAF2):c.270G>C (p.Val90=) rs767758073 0.00006
NM_018139.3(DNAAF2):c.968C>G (p.Pro323Arg) rs750921798 0.00005
NM_018139.3(DNAAF2):c.122A>C (p.Glu41Ala) rs1452570914 0.00004
NM_018139.3(DNAAF2):c.1391G>A (p.Gly464Asp) rs1024449397 0.00004
NM_018139.3(DNAAF2):c.1442C>A (p.Ala481Glu) rs372054376 0.00004
NM_018139.3(DNAAF2):c.1503G>T (p.Thr501=) rs201546624 0.00004
NM_018139.3(DNAAF2):c.1983T>A (p.Asp661Glu) rs758897357 0.00004
NM_018139.3(DNAAF2):c.2007+5G>A rs757313579 0.00004
NM_018139.3(DNAAF2):c.2008-10C>T rs747595279 0.00004
NM_018139.3(DNAAF2):c.2331A>G (p.Glu777=) rs755114164 0.00004
NM_018139.3(DNAAF2):c.2475A>G (p.Ala825=) rs151051293 0.00004
NM_018139.3(DNAAF2):c.2490T>C (p.Asn830=) rs774072576 0.00004
NM_018139.3(DNAAF2):c.343C>G (p.Pro115Ala) rs931555570 0.00004
NM_018139.3(DNAAF2):c.365C>T (p.Pro122Leu) rs958625302 0.00004
NM_018139.3(DNAAF2):c.734C>T (p.Ala245Val) rs754858452 0.00004
NM_018139.3(DNAAF2):c.937A>G (p.Lys313Glu) rs777195189 0.00004
NM_018139.3(DNAAF2):c.1349G>T (p.Ser450Ile) rs185938951 0.00003
NM_018139.3(DNAAF2):c.1947G>A (p.Leu649=) rs1175004755 0.00003
NM_018139.3(DNAAF2):c.2381C>T (p.Thr794Met) rs185361306 0.00003
NM_018139.3(DNAAF2):c.2388C>T (p.His796=) rs140997181 0.00003
NM_018139.3(DNAAF2):c.331C>A (p.Arg111=) rs761666035 0.00003
NM_018139.3(DNAAF2):c.377C>T (p.Ala126Val) rs771603303 0.00003
NM_018139.3(DNAAF2):c.462C>G (p.Ala154=) rs749642262 0.00003
NM_018139.3(DNAAF2):c.648G>C (p.Glu216Asp) rs755099616 0.00003
NM_018139.3(DNAAF2):c.-4C>G rs528847072 0.00002
NM_018139.3(DNAAF2):c.1072G>A (p.Ala358Thr) rs1060503179 0.00002
NM_018139.3(DNAAF2):c.118G>T (p.Ala40Ser) rs765847926 0.00002
NM_018139.3(DNAAF2):c.126G>A (p.Glu42=) rs373348391 0.00002
NM_018139.3(DNAAF2):c.1415C>T (p.Ser472Phe) rs760270240 0.00002
NM_018139.3(DNAAF2):c.1624C>T (p.Arg542Trp) rs201615253 0.00002
NM_018139.3(DNAAF2):c.168C>T (p.Ile56=) rs768247249 0.00002
NM_018139.3(DNAAF2):c.2196T>C (p.Ser732=) rs753031545 0.00002
NM_018139.3(DNAAF2):c.2313C>T (p.Asn771=) rs749855090 0.00002
NM_018139.3(DNAAF2):c.2415A>G (p.Lys805=) rs201826641 0.00002
NM_018139.3(DNAAF2):c.374T>C (p.Leu125Pro) rs771875922 0.00002
NM_018139.3(DNAAF2):c.404G>A (p.Ser135Asn) rs759580456 0.00002
NM_018139.3(DNAAF2):c.424T>C (p.Tyr142His) rs541765275 0.00002
NM_018139.3(DNAAF2):c.530G>C (p.Gly177Ala) rs372399039 0.00002
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002
NM_018139.3(DNAAF2):c.676T>C (p.Tyr226His) rs566190340 0.00002
NM_018139.3(DNAAF2):c.779G>T (p.Arg260Leu) rs763643131 0.00002
NM_018139.3(DNAAF2):c.950G>A (p.Arg317Gln) rs374063062 0.00002
NM_018139.3(DNAAF2):c.*191A>G rs886050525 0.00001
NM_018139.3(DNAAF2):c.*290_*294del rs886050524 0.00001
NM_018139.3(DNAAF2):c.1065G>A (p.Arg355=) rs1227325360 0.00001
NM_018139.3(DNAAF2):c.1069C>G (p.Pro357Ala) rs1382686393 0.00001
NM_018139.3(DNAAF2):c.1070C>T (p.Pro357Leu) rs1389972313 0.00001
NM_018139.3(DNAAF2):c.10G>A (p.Ala4Thr) rs543582959 0.00001
NM_018139.3(DNAAF2):c.137C>G (p.Pro46Arg) rs537173870 0.00001
NM_018139.3(DNAAF2):c.1467T>C (p.Asp489=) rs201056459 0.00001
NM_018139.3(DNAAF2):c.154T>C (p.Tyr52His) rs749085334 0.00001
NM_018139.3(DNAAF2):c.1563G>T (p.Leu521Phe) rs1485202846 0.00001
NM_018139.3(DNAAF2):c.1606C>T (p.Leu536=) rs1289754130 0.00001
NM_018139.3(DNAAF2):c.1622C>T (p.Pro541Leu) rs757899121 0.00001
NM_018139.3(DNAAF2):c.1795G>A (p.Ala599Thr) rs756765143 0.00001
NM_018139.3(DNAAF2):c.181C>T (p.Arg61Cys) rs1253214739 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.20C>T (p.Ser7Phe) rs577796590 0.00001
NM_018139.3(DNAAF2):c.2106C>T (p.Asn702=) rs1555327430 0.00001
NM_018139.3(DNAAF2):c.2134A>G (p.Ile712Val) rs961303731 0.00001
NM_018139.3(DNAAF2):c.2139A>C (p.Ala713=) rs997727890 0.00001
NM_018139.3(DNAAF2):c.2205T>A (p.Val735=) rs750136915 0.00001
NM_018139.3(DNAAF2):c.2314G>A (p.Glu772Lys) rs1469795552 0.00001
NM_018139.3(DNAAF2):c.233dup (p.Arg79fs) rs1210988336 0.00001
NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter) rs747290752 0.00001
NM_018139.3(DNAAF2):c.2429A>G (p.Gln810Arg) rs780416166 0.00001
NM_018139.3(DNAAF2):c.2505T>C (p.Asp835=) rs1229371492 0.00001
NM_018139.3(DNAAF2):c.274G>C (p.Val92Leu) rs1416652175 0.00001
NM_018139.3(DNAAF2):c.299C>G (p.Ala100Gly) rs1246371500 0.00001
NM_018139.3(DNAAF2):c.334G>C (p.Gly112Arg) rs1409395409 0.00001
NM_018139.3(DNAAF2):c.460G>A (p.Ala154Thr) rs1302191659 0.00001
NM_018139.3(DNAAF2):c.471C>T (p.His157=) rs886050528 0.00001
NM_018139.3(DNAAF2):c.544C>G (p.Arg182Gly) rs1227265660 0.00001
NM_018139.3(DNAAF2):c.616C>A (p.Pro206Thr) rs781591271 0.00001
NM_018139.3(DNAAF2):c.686A>G (p.Gln229Arg) rs762538506 0.00001
NM_018139.3(DNAAF2):c.693G>A (p.Pro231=) rs764901505 0.00001
NM_018139.3(DNAAF2):c.697G>A (p.Ala233Thr) rs761407249 0.00001
NM_018139.3(DNAAF2):c.788T>C (p.Val263Ala) rs564215636 0.00001
NM_018139.3(DNAAF2):c.829_835dup (p.Val279fs) rs777108430 0.00001
NM_018139.3(DNAAF2):c.*157A>G rs1010007979
NM_018139.3(DNAAF2):c.*182del rs879075266
NM_018139.3(DNAAF2):c.*213A>G rs1882971555
NM_018139.3(DNAAF2):c.1030G>C (p.Val344Leu) rs769244195
NM_018139.3(DNAAF2):c.1044G>A (p.Val348=)
NM_018139.3(DNAAF2):c.1047G>A (p.Val349=)
NM_018139.3(DNAAF2):c.1052C>T (p.Pro351Leu)
NM_018139.3(DNAAF2):c.1053G>A (p.Pro351=)
NM_018139.3(DNAAF2):c.1056C>T (p.Ala352=)
NM_018139.3(DNAAF2):c.1063C>G (p.Arg355Gly)
NM_018139.3(DNAAF2):c.1066G>A (p.Glu356Lys) rs577991424
NM_018139.3(DNAAF2):c.1068G>A (p.Glu356=)
NM_018139.3(DNAAF2):c.127C>T (p.Leu43Phe)
NM_018139.3(DNAAF2):c.12G>A (p.Ala4=)
NM_018139.3(DNAAF2):c.1359G>T (p.Glu453Asp)
NM_018139.3(DNAAF2):c.1386T>A (p.Pro462=)
NM_018139.3(DNAAF2):c.1389T>C (p.Gly463=)
NM_018139.3(DNAAF2):c.1398C>T (p.Gly466=)
NM_018139.3(DNAAF2):c.1400C>T (p.Ser467Phe)
NM_018139.3(DNAAF2):c.1416C>T (p.Ser472=) rs1420073386
NM_018139.3(DNAAF2):c.1433dup (p.Ser479fs) rs1555327928
NM_018139.3(DNAAF2):c.1439C>T (p.Ser480Phe) rs1566511752
NM_018139.3(DNAAF2):c.1443G>A (p.Ala481=)
NM_018139.3(DNAAF2):c.1443G>C (p.Ala481=)
NM_018139.3(DNAAF2):c.1443G>T (p.Ala481=)
NM_018139.3(DNAAF2):c.1445G>C (p.Gly482Ala) rs1427910863
NM_018139.3(DNAAF2):c.144C>T (p.Asn48=) rs116185352
NM_018139.3(DNAAF2):c.1458G>A (p.Ala486=)
NM_018139.3(DNAAF2):c.1465G>C (p.Asp489His)
NM_018139.3(DNAAF2):c.1490A>T (p.Glu497Val)
NM_018139.3(DNAAF2):c.14C>T (p.Ala5Val)
NM_018139.3(DNAAF2):c.1502C>T (p.Thr501Met) rs375822050
NM_018139.3(DNAAF2):c.1506C>T (p.Gly502=)
NM_018139.3(DNAAF2):c.1510C>T (p.Gln504Ter)
NM_018139.3(DNAAF2):c.1515del (p.Ser506fs)
NM_018139.3(DNAAF2):c.1545C>G (p.Thr515=)
NM_018139.3(DNAAF2):c.1552G>A (p.Gly518Arg) rs145008882
NM_018139.3(DNAAF2):c.1554G>A (p.Gly518=)
NM_018139.3(DNAAF2):c.1555del (p.Glu519fs) rs1555327917
NM_018139.3(DNAAF2):c.1567C>T (p.Pro523Ser)
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.1572G>C (p.Pro524=)
NM_018139.3(DNAAF2):c.1576C>T (p.Leu526=) rs2139580929
NM_018139.3(DNAAF2):c.1582A>C (p.Asn528His)
NM_018139.3(DNAAF2):c.1585C>T (p.Gln529Ter) rs139416233
NM_018139.3(DNAAF2):c.1587G>A (p.Gln529=)
NM_018139.3(DNAAF2):c.1588G>A (p.Asp530Asn) rs146272677
NM_018139.3(DNAAF2):c.1590C>G (p.Asp530Glu)
NM_018139.3(DNAAF2):c.1596A>G (p.Glu532=) rs374369407
NM_018139.3(DNAAF2):c.1597A>G (p.Thr533Ala) rs547924178
NM_018139.3(DNAAF2):c.159G>A (p.Glu53=) rs2139584413
NM_018139.3(DNAAF2):c.1605T>G (p.Thr535=)
NM_018139.3(DNAAF2):c.1612A>C (p.Ile538Leu) rs531303883
NM_018139.3(DNAAF2):c.1614T>C (p.Ile538=)
NM_018139.3(DNAAF2):c.163G>A (p.Glu55Lys) rs2139584403
NM_018139.3(DNAAF2):c.166A>G (p.Ile56Val) rs1566513759
NM_018139.3(DNAAF2):c.1689A>C (p.Ala563=)
NM_018139.3(DNAAF2):c.1692A>T (p.Gln564His) rs1389375533
NM_018139.3(DNAAF2):c.169A>G (p.Thr57Ala)
NM_018139.3(DNAAF2):c.1707C>A (p.Ser569=)
NM_018139.3(DNAAF2):c.1763G>C (p.Ser588Thr)
NM_018139.3(DNAAF2):c.1772C>T (p.Ser591Leu)
NM_018139.3(DNAAF2):c.1779T>C (p.Asn593=)
NM_018139.3(DNAAF2):c.178G>A (p.Glu60Lys) rs1180545101
NM_018139.3(DNAAF2):c.1806A>G (p.Pro602=)
NM_018139.3(DNAAF2):c.1807G>T (p.Glu603Ter)
NM_018139.3(DNAAF2):c.180G>C (p.Glu60Asp)
NM_018139.3(DNAAF2):c.1812C>T (p.Ser604=)
NM_018139.3(DNAAF2):c.1813C>T (p.His605Tyr) rs964761675
NM_018139.3(DNAAF2):c.181C>G (p.Arg61Gly)
NM_018139.3(DNAAF2):c.1839T>C (p.Tyr613=)
NM_018139.3(DNAAF2):c.1841G>A (p.Gly614Asp) rs752092329
NM_018139.3(DNAAF2):c.1856C>T (p.Ser619Phe)
NM_018139.3(DNAAF2):c.1863+19G>A
NM_018139.3(DNAAF2):c.1864-13C>G rs1198098002
NM_018139.3(DNAAF2):c.1864-9_1864-8del rs755892796
NM_018139.3(DNAAF2):c.186G>A (p.Glu62=)
NM_018139.3(DNAAF2):c.1885G>A (p.Glu629Lys)
NM_018139.3(DNAAF2):c.1891G>A (p.Val631Ile) rs183126428
NM_018139.3(DNAAF2):c.1895_1898del (p.Asn632fs)
NM_018139.3(DNAAF2):c.1906G>T (p.Glu636Ter)
NM_018139.3(DNAAF2):c.1911G>A (p.Glu637=)
NM_018139.3(DNAAF2):c.1914C>T (p.Val638=)
NM_018139.3(DNAAF2):c.192G>A (p.Gly64=)
NM_018139.3(DNAAF2):c.1931A>G (p.Lys644Arg)
NM_018139.3(DNAAF2):c.1931_1932delinsGT (p.Lys644Ser) rs2139574212
NM_018139.3(DNAAF2):c.1932A>T (p.Lys644Asn)
NM_018139.3(DNAAF2):c.1939A>G (p.Met647Val) rs1883057031
NM_018139.3(DNAAF2):c.1944C>G (p.Ser648=)
NM_018139.3(DNAAF2):c.1949C>T (p.Thr650Ile)
NM_018139.3(DNAAF2):c.1954C>G (p.Pro652Ala) rs1883055893
NM_018139.3(DNAAF2):c.1960A>G (p.Ile654Val) rs1594603805
NM_018139.3(DNAAF2):c.2001T>C (p.Asn667=)
NM_018139.3(DNAAF2):c.2007+10T>C
NM_018139.3(DNAAF2):c.2007+6G>A
NM_018139.3(DNAAF2):c.2008-12C>G
NM_018139.3(DNAAF2):c.2008-19G>A
NM_018139.3(DNAAF2):c.2027_2028del (p.Asn675_Ser676insTer) rs752488141
NM_018139.3(DNAAF2):c.2035C>T (p.Leu679=)
NM_018139.3(DNAAF2):c.2046G>A (p.Lys682=)
NM_018139.3(DNAAF2):c.2092A>G (p.Ile698Val)
NM_018139.3(DNAAF2):c.2102G>T (p.Cys701Phe)
NM_018139.3(DNAAF2):c.2108C>A (p.Thr703Asn)
NM_018139.3(DNAAF2):c.2125G>T (p.Asp709Tyr)
NM_018139.3(DNAAF2):c.2148A>C (p.Ala716=)
NM_018139.3(DNAAF2):c.2178A>G (p.Thr726=) rs779403171
NM_018139.3(DNAAF2):c.2211A>G (p.Gln737=)
NM_018139.3(DNAAF2):c.2269G>T (p.Glu757Ter)
NM_018139.3(DNAAF2):c.226_232dup (p.Leu78fs) rs1555328130
NM_018139.3(DNAAF2):c.227A>G (p.His76Arg)
NM_018139.3(DNAAF2):c.228T>C (p.His76=)
NM_018139.3(DNAAF2):c.2307_2311del (p.Asn769fs)
NM_018139.3(DNAAF2):c.2324T>A (p.Ile775Lys) rs1363447010
NM_018139.3(DNAAF2):c.2338G>A (p.Glu780Lys)
NM_018139.3(DNAAF2):c.2338G>C (p.Glu780Gln) rs778899267
NM_018139.3(DNAAF2):c.2364A>G (p.Ser788=)
NM_018139.3(DNAAF2):c.2373C>T (p.Asn791=)
NM_018139.3(DNAAF2):c.237C>T (p.Arg79=)
NM_018139.3(DNAAF2):c.2380A>G (p.Thr794Ala)
NM_018139.3(DNAAF2):c.238A>C (p.Thr80Pro) rs1883300171
NM_018139.3(DNAAF2):c.2393T>C (p.Ile798Thr) rs1882983539
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter) rs137853191
NM_018139.3(DNAAF2):c.2404G>A (p.Asp802Asn)
NM_018139.3(DNAAF2):c.2416G>T (p.Glu806Ter) rs1882982458
NM_018139.3(DNAAF2):c.2421C>G (p.Thr807=)
NM_018139.3(DNAAF2):c.2426T>G (p.Met809Arg)
NM_018139.3(DNAAF2):c.2446G>A (p.Val816Ile)
NM_018139.3(DNAAF2):c.2449A>G (p.Ile817Val) rs777785769
NM_018139.3(DNAAF2):c.2460T>C (p.His820=) rs909774302
NM_018139.3(DNAAF2):c.2489del (p.Asn830fs)
NM_018139.3(DNAAF2):c.2499A>G (p.Leu833=)
NM_018139.3(DNAAF2):c.2503G>T (p.Asp835Tyr)
NM_018139.3(DNAAF2):c.250G>C (p.Gly84Arg)
NM_018139.3(DNAAF2):c.2514A>G (p.Ter838=)
NM_018139.3(DNAAF2):c.260G>A (p.Arg87His) rs1555328120
NM_018139.3(DNAAF2):c.26C>A (p.Ser9Ter) rs867153082
NM_018139.3(DNAAF2):c.278G>T (p.Cys93Phe) rs904534333
NM_018139.3(DNAAF2):c.295G>A (p.Gly99Ser)
NM_018139.3(DNAAF2):c.300G>A (p.Ala100=) rs1566513551
NM_018139.3(DNAAF2):c.305G>A (p.Ser102Asn)
NM_018139.3(DNAAF2):c.306C>A (p.Ser102Arg) rs1555328112
NM_018139.3(DNAAF2):c.306C>T (p.Ser102=) rs1555328112
NM_018139.3(DNAAF2):c.309C>T (p.Ser103=)
NM_018139.3(DNAAF2):c.311G>A (p.Arg104Gln)
NM_018139.3(DNAAF2):c.315C>G (p.Pro105=)
NM_018139.3(DNAAF2):c.31del (p.Glu11fs) rs797045146
NM_018139.3(DNAAF2):c.321C>G (p.Ser107=)
NM_018139.3(DNAAF2):c.327C>G (p.Gly109=) rs914228343
NM_018139.3(DNAAF2):c.331C>T (p.Arg111Trp) rs761666035
NM_018139.3(DNAAF2):c.343C>T (p.Pro115Ser) rs931555570
NM_018139.3(DNAAF2):c.363G>C (p.Leu121=) rs533083141
NM_018139.3(DNAAF2):c.370_393del (p.Ser124_Tyr131del) rs2139583907
NM_018139.3(DNAAF2):c.381C>T (p.Pro127=)
NM_018139.3(DNAAF2):c.384C>T (p.Gly128=)
NM_018139.3(DNAAF2):c.386G>A (p.Arg129His) rs1294565597
NM_018139.3(DNAAF2):c.387C>G (p.Arg129=) rs886050529
NM_018139.3(DNAAF2):c.388G>T (p.Glu130Ter) rs752795172
NM_018139.3(DNAAF2):c.396G>A (p.Ala132=) rs1594609626
NM_018139.3(DNAAF2):c.396G>C (p.Ala132=)
NM_018139.3(DNAAF2):c.411C>A (p.Ser137Arg) rs541232616
NM_018139.3(DNAAF2):c.418A>G (p.Met140Val) rs572101185
NM_018139.3(DNAAF2):c.421G>A (p.Val141Ile) rs2139583849
NM_018139.3(DNAAF2):c.428A>T (p.Asp143Val) rs1883290227
NM_018139.3(DNAAF2):c.436T>G (p.Phe146Val) rs1207595112
NM_018139.3(DNAAF2):c.455C>A (p.Ala152Glu) rs1594609551
NM_018139.3(DNAAF2):c.465G>A (p.Arg155=)
NM_018139.3(DNAAF2):c.476dup (p.Phe160fs) rs767450283
NM_018139.3(DNAAF2):c.479T>C (p.Phe160Ser)
NM_018139.3(DNAAF2):c.480C>T (p.Phe160=)
NM_018139.3(DNAAF2):c.484C>T (p.Gln162Ter) rs1555328087
NM_018139.3(DNAAF2):c.489G>A (p.Met163Ile)
NM_018139.3(DNAAF2):c.501G>A (p.Thr167=) rs1179653801
NM_018139.3(DNAAF2):c.505C>T (p.Leu169=)
NM_018139.3(DNAAF2):c.506T>C (p.Leu169Pro) rs1208445913
NM_018139.3(DNAAF2):c.532G>T (p.Val178Leu) rs767502889
NM_018139.3(DNAAF2):c.549G>A (p.Arg183=)
NM_018139.3(DNAAF2):c.573G>T (p.Lys191Asn)
NM_018139.3(DNAAF2):c.580G>C (p.Gly194Arg) rs557931447
NM_018139.3(DNAAF2):c.582G>A (p.Gly194=) rs532979117
NM_018139.3(DNAAF2):c.582G>C (p.Gly194=) rs532979117
NM_018139.3(DNAAF2):c.588A>T (p.Pro196=)
NM_018139.3(DNAAF2):c.589G>A (p.Glu197Lys) rs1883282453
NM_018139.3(DNAAF2):c.593C>T (p.Ala198Val)
NM_018139.3(DNAAF2):c.59T>A (p.Val20Asp) rs1566513874
NM_018139.3(DNAAF2):c.600G>A (p.Val200=)
NM_018139.3(DNAAF2):c.609G>T (p.Thr203=) rs1446340789
NM_018139.3(DNAAF2):c.618C>A (p.Pro206=) rs759493468
NM_018139.3(DNAAF2):c.620G>A (p.Gly207Glu)
NM_018139.3(DNAAF2):c.631G>A (p.Ala211Thr) rs868693971
NM_018139.3(DNAAF2):c.645G>A (p.Gly215=)
NM_018139.3(DNAAF2):c.650C>T (p.Pro217Leu) rs1594609205
NM_018139.3(DNAAF2):c.650del (p.Pro217fs)
NM_018139.3(DNAAF2):c.651G>C (p.Pro217=) rs747603885
NM_018139.3(DNAAF2):c.65G>A (p.Arg22Gln) rs755978191
NM_018139.3(DNAAF2):c.660T>C (p.Pro220=) rs2139583283
NM_018139.3(DNAAF2):c.668A>G (p.Asp223Gly) rs1371877589
NM_018139.3(DNAAF2):c.673C>T (p.Pro225Ser) rs752558578
NM_018139.3(DNAAF2):c.675C>T (p.Pro225=)
NM_018139.3(DNAAF2):c.676T>G (p.Tyr226Asp)
NM_018139.3(DNAAF2):c.678C>T (p.Tyr226=)
NM_018139.3(DNAAF2):c.681T>A (p.Pro227=)
NM_018139.3(DNAAF2):c.682T>C (p.Tyr228His)
NM_018139.3(DNAAF2):c.683A>G (p.Tyr228Cys)
NM_018139.3(DNAAF2):c.696_702del (p.Ala233fs) rs1555328047
NM_018139.3(DNAAF2):c.705G>A (p.Gly235=)
NM_018139.3(DNAAF2):c.719C>A (p.Ser240Tyr)
NM_018139.3(DNAAF2):c.722C>G (p.Pro241Arg)
NM_018139.3(DNAAF2):c.727G>A (p.Glu243Lys) rs727504815
NM_018139.3(DNAAF2):c.727G>T (p.Glu243Ter) rs727504815
NM_018139.3(DNAAF2):c.727_754del (p.Glu243fs) rs770045708
NM_018139.3(DNAAF2):c.732G>A (p.Ala244=)
NM_018139.3(DNAAF2):c.74C>T (p.Ser25Phe) rs868381739
NM_018139.3(DNAAF2):c.751A>C (p.Thr251Pro)
NM_018139.3(DNAAF2):c.754G>T (p.Glu252Ter)
NM_018139.3(DNAAF2):c.78C>G (p.Ala26=) rs7156297
NM_018139.3(DNAAF2):c.804C>G (p.Tyr268Ter) rs1555328022
NM_018139.3(DNAAF2):c.805C>G (p.Arg269Gly)
NM_018139.3(DNAAF2):c.810C>T (p.Cys270=)
NM_018139.3(DNAAF2):c.820_821del (p.Ala275fs)
NM_018139.3(DNAAF2):c.827C>G (p.Pro276Arg)
NM_018139.3(DNAAF2):c.830G>A (p.Ser277Asn)
NM_018139.3(DNAAF2):c.834C>G (p.Pro278=)
NM_018139.3(DNAAF2):c.838C>T (p.Pro280Ser) rs2139582764
NM_018139.3(DNAAF2):c.843T>A (p.His281Gln) rs753291588
NM_018139.3(DNAAF2):c.864A>G (p.Glu288=) rs1883265471
NM_018139.3(DNAAF2):c.882G>C (p.Ser294=)
NM_018139.3(DNAAF2):c.882G>T (p.Ser294=)
NM_018139.3(DNAAF2):c.895G>C (p.Ala299Pro)
NM_018139.3(DNAAF2):c.913A>G (p.Lys305Glu)
NM_018139.3(DNAAF2):c.953del (p.Leu318fs)
NM_018139.3(DNAAF2):c.986G>A (p.Gly329Asp) rs774079854

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