ClinVar Miner

List of variants in gene DNAAF1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1529-140G>A rs12926474 0.59328
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51384
NM_178452.6(DNAAF1):c.2065+267T>G rs3743637 0.51307
NM_178452.6(DNAAF1):c.1645-243T>G rs3803643 0.46080
NM_178452.6(DNAAF1):c.574+172G>A rs6564002 0.45760
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37678
NM_178452.6(DNAAF1):c.1528+223C>T rs4611442 0.37388
NM_178452.6(DNAAF1):c.1529-188T>G rs9926314 0.34802
NM_178452.6(DNAAF1):c.863+239T>A rs35219837 0.30552
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30535
NM_178452.6(DNAAF1):c.864-290A>T rs11647209 0.30524
NM_178452.6(DNAAF1):c.1698+114T>C rs67628212 0.29947
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28680
NM_178452.6(DNAAF1):c.1699-41T>C rs4782899 0.28659
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_178452.6(DNAAF1):c.1528+81T>A rs4578631 0.28297
NM_178452.6(DNAAF1):c.1698+167T>C rs62049864 0.28189
NM_178452.6(DNAAF1):c.1699-185T>A rs12920129 0.28086
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27950
NM_178452.6(DNAAF1):c.1529-175G>A rs60530305 0.27749
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16313
NM_178452.6(DNAAF1):c.1030+311C>T rs62048448 0.13051
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_178452.6(DNAAF1):c.353-306T>C rs62048437 0.07228
NM_178452.6(DNAAF1):c.863+159T>C rs10514603 0.06608
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_178452.6(DNAAF1):c.260+219C>G rs76448973 0.05517
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.04969
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_178452.6(DNAAF1):c.864-169G>T rs74695550 0.03669
NM_178452.6(DNAAF1):c.1031-219T>G rs138158514 0.03586
NM_178452.6(DNAAF1):c.352+30G>A rs78056463 0.03469
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_178452.6(DNAAF1):c.742-139A>G rs77761071 0.03079
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03033
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02685
NM_178452.6(DNAAF1):c.1698+282A>T rs139190399 0.02626
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
NM_178452.6(DNAAF1):c.574+27C>G rs117184646 0.01785
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01064
NM_178452.6(DNAAF1):c.575-75G>A rs116585656 0.00769
NM_178452.6(DNAAF1):c.261-54G>A rs75346263 0.00425
NM_178452.6(DNAAF1):c.575-46C>A rs79278594 0.00389
NM_178452.6(DNAAF1):c.575-119G>A rs545556398 0.00236
NM_178452.6(DNAAF1):c.1718T>C (p.Ile573Thr) rs137862641 0.00229
NM_178452.6(DNAAF1):c.1664A>T (p.Asp555Val) rs145973397 0.00178
NM_178452.6(DNAAF1):c.1567G>A (p.Val523Ile) rs148387367 0.00167
NM_178452.6(DNAAF1):c.1030+14C>T rs202113269 0.00120
NM_178452.6(DNAAF1):c.1031-5A>T rs79772571 0.00118
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00065
NM_178452.6(DNAAF1):c.1300G>A (p.Gly434Arg) rs117114021 0.00054
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.2120C>T (p.Pro707Leu) rs757455850 0.00013
NM_178452.6(DNAAF1):c.989G>A (p.Arg330Gln) rs751716129 0.00004
NM_178452.6(DNAAF1):c.1030+104_1030+115del rs58906103
NM_178452.6(DNAAF1):c.1030+105_1030+115del rs58906103
NM_178452.6(DNAAF1):c.1030+112_1030+115del rs58906103
NM_178452.6(DNAAF1):c.1030+113_1030+115del rs58906103
NM_178452.6(DNAAF1):c.1030+115del rs58906103
NM_178452.6(DNAAF1):c.1030+115dup rs58906103
NM_178452.6(DNAAF1):c.1030+260T>A rs117188437
NM_178452.6(DNAAF1):c.1030+62C>G rs11866161
NM_178452.6(DNAAF1):c.1031-109T>G rs35849241
NM_178452.6(DNAAF1):c.1069G>A (p.Ala357Thr) rs539175862
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs) rs745495583
NM_178452.6(DNAAF1):c.1528+236G>C rs4575519
NM_178452.6(DNAAF1):c.1528+293_1528+294dup rs5818485
NM_178452.6(DNAAF1):c.1528+295C>G rs5024459
NM_178452.6(DNAAF1):c.1528+295C>T rs5024459
NM_178452.6(DNAAF1):c.1645-131C>G rs3803642
NM_178452.6(DNAAF1):c.1645-308A>T rs142410397
NM_178452.6(DNAAF1):c.1698+120del rs111554344
NM_178452.6(DNAAF1):c.2061_2063dup (p.Pro688dup) rs776738547
NM_178452.6(DNAAF1):c.261-216dup rs1256195166
NM_178452.6(DNAAF1):c.352+290_352+291dup rs754336069
NM_178452.6(DNAAF1):c.352+291del rs754336069
NM_178452.6(DNAAF1):c.352+291dup rs754336069
NM_178452.6(DNAAF1):c.353-292G>T rs62048438
NM_178452.6(DNAAF1):c.574+332G>C rs8050706
NM_178452.6(DNAAF1):c.741+187A>C rs74531765
NM_178452.6(DNAAF1):c.741+3_741+8del
NM_178452.6(DNAAF1):c.742-110A>C rs80353755
NM_178452.6(DNAAF1):c.742-291T>G rs7196387
NM_178452.6(DNAAF1):c.778C>T (p.Gln260Ter) rs2087613070
NM_178452.6(DNAAF1):c.863+184del rs11292642
NM_178452.6(DNAAF1):c.863+307C>G rs8058923
NM_178452.6(DNAAF1):c.863+307C>T rs8058923
NM_178452.6(DNAAF1):c.864-194T>C rs77606414

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