ClinVar Miner

List of variants in gene DNAAF3 reported as pathogenic

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001256715.2(DNAAF3):c.155dup (p.Ser54fs) rs745465871 0.00004
NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter) rs770403610 0.00002
NM_001256715.2(DNAAF3):c.755A>G (p.Asn252Ser) rs757536895 0.00002
NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter) rs387907152 0.00001
NM_001256715.2(DNAAF3):c.621dup (p.Val208fs) rs397515395 0.00001
NM_001256715.2(DNAAF3):c.1109_1110del (p.Leu370fs) rs2085791151
NM_001256715.2(DNAAF3):c.1135C>T (p.Arg379Ter) rs763874734
NM_001256715.2(DNAAF3):c.1195del (p.Ala399fs) rs2085781090
NM_001256715.2(DNAAF3):c.1253_1256dup (p.Gln420fs)
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001256715.2(DNAAF3):c.161_162del (p.Ser54fs) rs780701843
NM_001256715.2(DNAAF3):c.164_165del (p.Val55fs) rs770306950
NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro) rs387907151
NM_001256715.2(DNAAF3):c.363_373del (p.Leu122fs) rs1159887305
NM_001256715.2(DNAAF3):c.42del (p.Ser15fs)
NM_001256715.2(DNAAF3):c.448C>T (p.Gln150Ter)
NM_001256715.2(DNAAF3):c.458G>A (p.Trp153Ter)
NM_001256715.2(DNAAF3):c.480+2_480+9del rs2147299107
NM_001256715.2(DNAAF3):c.51G>A (p.Trp17Ter)
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer) rs2147297973
NM_001256715.2(DNAAF3):c.598_611del (p.Ser200fs) rs772829541
NM_001256715.2(DNAAF3):c.607_611dup (p.Arg205fs) rs1060502831
NM_001256715.2(DNAAF3):c.632G>A (p.Trp211Ter)
NM_001256715.2(DNAAF3):c.76C>T (p.Gln26Ter)
NM_001256715.2(DNAAF3):c.849_863del (p.Phe285_Ala289del)
NM_001256715.2(DNAAF3):c.85+2T>G
NM_001256715.2(DNAAF3):c.86-61_86-52del
NM_001256715.2(DNAAF3):c.86-6del
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter) rs2085819579

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