ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_722659)_(722805_?)del
NC_000017.10:g.(?_722659)_(729338_?)del
NM_022463.5(NXN):c.1021_1024del (p.Ser341fs)
NM_022463.5(NXN):c.187del (p.Asp63fs)
NM_022463.5(NXN):c.382C>T (p.Arg128Ter) rs770241381
NM_022463.5(NXN):c.494G>A (p.Trp165Ter)

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