ClinVar Miner

List of variants in gene SHOX reported as benign by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.277+17T>G rs2239402 0.97040
NM_006883.2(SHOX):c.657G>A (p.Pro219=) rs28474801 0.70636
NM_006883.2(SHOX):c.653G>A (p.Arg218His) rs193072890 0.01306
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_006883.2(SHOX):c.-512C>A rs113313554
NM_006883.2(SHOX):c.-636del
NM_006883.2(SHOX):c.-636dup

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