ClinVar Miner

List of variants in gene SHOX reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.277+17T>G rs2239402 0.97040
NM_000451.4(SHOX):c.870G>A (p.Leu290=) rs746391025 0.01047
NM_006883.2(SHOX):c.-432-84C>G rs768130629 0.00533
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_006883.2(SHOX):c.-432-45C>T rs773802131 0.00273
NM_000451.4(SHOX):c.864G>A (p.Glu288=) rs781656634 0.00215
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr) rs376330042 0.00018
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn) rs202144835 0.00003
NM_000451.4(SHOX):c.634-7C>T rs1339856351 0.00003
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000451.4(SHOX):c.702G>A (p.Ala234=) rs576542942 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000451.4(SHOX):c.-55C>T rs772910213
NM_000451.4(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) rs137852556
NM_000451.4(SHOX):c.829G>A (p.Ala277Thr) rs398123403
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_006883.2(SHOX):c.-432-96G>A rs188327789

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