ClinVar Miner

Variants in gene DNAAF1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
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.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_178452.6(DNAAF1):c.155G>A (p.Gly52Asp) rs146725281 0.00027
NM_178452.6(DNAAF1):c.1350G>A (p.Pro450=) rs148990251 0.00026
NM_178452.6(DNAAF1):c.1083C>T (p.Gly361=) rs200487337 0.00022
NM_178452.6(DNAAF1):c.115T>C (p.Cys39Arg) rs373512514 0.00017
NM_178452.6(DNAAF1):c.2080G>A (p.Ala694Thr) rs376164700 0.00006
NM_178452.6(DNAAF1):c.13C>G (p.Pro5Ala) rs1024875120 0.00003
NM_178452.6(DNAAF1):c.491G>A (p.Arg164His) rs750513286 0.00002
NM_178452.6(DNAAF1):c.1592C>T (p.Thr531Met) rs193291760 0.00001
NM_178452.6(DNAAF1):c.2083G>A (p.Ala695Thr) rs775618173 0.00001
NM_178452.6(DNAAF1):c.1712C>T (p.Pro571Leu) rs199727292
NM_178452.6(DNAAF1):c.1780G>A (p.Val594Met) rs2088633060
NM_178452.6(DNAAF1):c.2165C>T (p.Pro722Leu) rs775816960

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