ClinVar Miner

List of variants in gene SHOX studied for SHOX-related short stature

Included ClinVar conditions (2):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000451.4(SHOX):c.528= (p.Glu176=) rs778921118 0.99998
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_006883.2(SHOX):c.-372G>A rs2239401 0.20344
NM_000451.4(SHOX):c.*284_*285dup rs369390009 0.15785
NM_006883.2(SHOX):c.-512C>A rs113313554 0.02703
NM_000451.4(SHOX):c.*41C>A rs749355015 0.00509
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00291
NM_000451.4(SHOX):c.634-14G>T rs759067813 0.00070
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.544+10G>A rs369095468 0.00015
NM_000451.4(SHOX):c.-65C>A rs922062046 0.00005
NM_006883.2(SHOX):c.-649C>G rs886039879 0.00003
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NC_000024.9:g.730550_778092del
NM_000451.4(SHOX):c.-19G>A rs201157428
NM_000451.4(SHOX):c.236A>T (p.Lys79Met) rs1556457962
NM_000451.4(SHOX):c.277+2dup rs2522085015
NM_000451.4(SHOX):c.49A>T (p.Lys17Ter) rs2052635829
NM_000451.4(SHOX):c.528G>C (p.Glu176Asp) rs778921118
NM_000451.4(SHOX):c.544+1G>A rs1057518701
NM_000451.4(SHOX):c.611C>T (p.Ala204Val)
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) rs752208304
NM_000451.4(SHOX):c.803A>G (p.Lys268Arg) rs1060499711
NM_000451.4(SHOX):c.83G>T (p.Gly28Val)
NM_006883.2(SHOX):c.-645_-644insGTT rs1556450972

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