ClinVar Miner

List of variants in gene SHOX reported as uncertain significance for SHOX-related short stature

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.528= (p.Glu176=) rs778921118 0.99999
NM_006883.2(SHOX):c.-372G>A rs2239401 0.20476
NM_000451.4(SHOX):c.*284_*285dup rs369390009 0.15912
NM_000451.4(SHOX):c.*41C>A rs749355015 0.00509
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000451.4(SHOX):c.544+10G>A rs369095468 0.00016
NM_000451.4(SHOX):c.-65C>A rs922062046 0.00005
NM_000451.4(SHOX):c.236A>T (p.Lys79Met) rs1556457962
NM_000451.4(SHOX):c.277+2dup
NM_000451.4(SHOX):c.803A>G (p.Lys268Arg) rs1060499711

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