ClinVar Miner

List of variants in gene SETX reported as uncertain significance for Distal spinal muscular atrophy

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475

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