ClinVar Miner

List of variants in gene RAX2 reported as pathogenic for not provided

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln) rs779301810 0.00005
NC_000019.9:g.(?_3771505)_(3771740_?)del
NM_001319074.4(RAX2):c.162_163del (p.Tyr55fs)
NM_001319074.4(RAX2):c.182_216+254del rs2037256715
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
NM_001319074.4(RAX2):c.465_475del (p.Ala156fs) rs886041039
NM_001319074.4(RAX2):c.92_95dup (p.Thr33fs)

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