ClinVar Miner

List of variants in gene SHOX reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000451.4(SHOX):c.698C>T (p.Ala233Val) rs750375727 0.00010
NM_006883.2(SHOX):c.634-1G>C rs1308380568 0.00009
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn) rs202144835 0.00003
NM_000451.4(SHOX):c.640G>A (p.Ala214Thr) rs1335171952 0.00003
NM_000451.4(SHOX):c.*5C>T rs1288254860 0.00002
NM_000451.4(SHOX):c.*3C>T rs891162345 0.00001
NM_000451.4(SHOX):c.528G>T (p.Glu176Asp) rs778921118 0.00001
NM_000451.4(SHOX):c.792C>G (p.Ala264=) rs1432441801 0.00001
NM_000451.4(SHOX):c.*14C>G
NM_000451.4(SHOX):c.*18del rs1363317245
NM_000451.4(SHOX):c.100A>T (p.Thr34Ser)
NM_000451.4(SHOX):c.261C>T (p.Thr87=) rs368925113
NM_000451.4(SHOX):c.277+20G>C
NM_000451.4(SHOX):c.37G>A (p.Asp13Asn) rs1469223043
NM_000451.4(SHOX):c.617G>A (p.Arg206Gln)
NM_000451.4(SHOX):c.66AGGCGG[1] (p.Gly27_Gly28del) rs747349135
NM_000451.4(SHOX):c.721T>C (p.Phe241Leu) rs752020837
NM_000451.4(SHOX):c.74G>A (p.Gly25Asp)
NM_000451.4(SHOX):c.82G>C (p.Gly28Arg) rs1170526645
NM_000451.4(SHOX):c.88A>G (p.Lys30Glu)
NM_006883.2(SHOX):c.*12T>C rs1569497023
NM_006883.2(SHOX):c.*16A>G rs1270583348
NM_006883.2(SHOX):c.*5G>A
NM_006883.2(SHOX):c.635T>C (p.Met212Thr)
NM_006883.2(SHOX):c.652C>T (p.Arg218Cys)
NM_006883.2(SHOX):c.655C>T (p.Pro219Ser)

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