ClinVar Miner

List of variants in gene DNAAF1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51121
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37821
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30436
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28427
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27717
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16102
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.05370
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03191
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02715
NM_178452.6(DNAAF1):c.228C>T (p.His76=) rs61743547 0.01842
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.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_178452.6(DNAAF1):c.1499C>G (p.Pro500Arg) rs138838276 0.00072
NM_178452.6(DNAAF1):c.1988C>T (p.Pro663Leu) rs147393144 0.00053
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_178452.6(DNAAF1):c.1990A>C (p.Thr664Pro) rs199680570 0.00041
NM_178452.6(DNAAF1):c.1205A>T (p.Glu402Val) rs144034147 0.00013
NM_178452.6(DNAAF1):c.507G>C (p.Leu169=) rs370128838 0.00011
NM_178452.6(DNAAF1):c.864-17_864-14del rs141073777

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