ClinVar Miner

List of variants in gene DNAAF3 reported as likely pathogenic

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001256715.2(DNAAF3):c.86-64G>A rs543369426 0.00009
NM_001256715.2(DNAAF3):c.789+1G>C rs770143722 0.00006
NM_001256715.2(DNAAF3):c.228+5G>C rs372166228 0.00001
NM_001256714.1(DNAAF3):c.23C>A (p.Ser8Ter) rs779603085
NM_001256715.2(DNAAF3):c.-4-1G>A rs2147311724
NM_001256715.2(DNAAF3):c.1051G>A (p.Ala351Thr) rs748600370
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs) rs1349668884
NM_001256715.2(DNAAF3):c.174del (p.His59fs) rs1384651581
NM_001256715.2(DNAAF3):c.366_430del (p.Val126fs)
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer) rs2147297973
NM_001256715.2(DNAAF3):c.854T>C (p.Phe285Ser)
NM_001256715.2(DNAAF3):c.901C>T (p.Gln301Ter) rs2085819579

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