ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01090
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00649
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00642
NM_178452.6(DNAAF1):c.1227T>G (p.Gly409=) rs148674729 0.00342
NM_178452.6(DNAAF1):c.1496C>T (p.Pro499Leu) rs112114400 0.00262
NM_178452.6(DNAAF1):c.1245C>G (p.Thr415=) rs147804813 0.00233
NM_178452.6(DNAAF1):c.303G>C (p.Lys101Asn) rs140386513 0.00190
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.1031-5A>T rs79772571 0.00118
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_178452.6(DNAAF1):c.1495C>A (p.Pro499Thr) rs201519478 0.00050
NM_178452.6(DNAAF1):c.1377T>A (p.Asp459Glu) rs761136963 0.00014
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777

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