ClinVar Miner

List of variants in gene NAXE studied for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_144772.3(NAXE):c.717A>C (p.Ile239=) rs6427322 0.93471
NM_144772.3(NAXE):c.664+28G>A rs6427321 0.93468
NM_144772.3(NAXE):c.804G>A (p.Glu268=) rs6668178 0.93461
NM_144772.3(NAXE):c.843C>T (p.Thr281=) rs942963 0.93461
NM_144772.3(NAXE):c.*22T>C rs1270 0.93458
NM_144772.3(NAXE):c.291+7G>A rs1925949 0.93449
NM_144772.3(NAXE):c.55G>C (p.Val19Leu) rs7516274 0.93444
NM_144772.3(NAXE):c.196C>T (p.Gln66Ter) rs759251812 0.00003
NM_144772.3(NAXE):c.430A>C (p.Lys144Gln) rs1049284499 0.00002
NM_144772.3(NAXE):c.385C>G (p.Arg129Gly) rs747476913 0.00001
NM_144772.3(NAXE):c.516+1G>A rs139093330 0.00001
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter) rs765587923
NM_144772.3(NAXE):c.177C>A (p.Tyr59Ter) rs371872027
NM_144772.3(NAXE):c.229del (p.Gln77fs) rs2102489197
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp) rs2102489248
NM_144772.3(NAXE):c.292-14G>A rs942959
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144772.3(NAXE):c.536dup (p.Tyr180fs) rs1677397982
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser) rs1677398842
NM_144772.3(NAXE):c.611T>C (p.Leu204Pro) rs2102491191
NM_144772.3(NAXE):c.653A>T (p.Asp218Val) rs886041064
NM_144772.3(NAXE):c.668G>A (p.Trp223Ter) rs1205686109
NM_144772.3(NAXE):c.743del (p.Ala248fs) rs886041063
NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del) rs886041062

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