ClinVar Miner

List of variants in gene SHOX studied for bone disorder

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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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_000451.4(SHOX):c.-55C>T rs772910213 0.00401
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_006883.2(SHOX):c.-432-3C>A rs1030279647 0.00016
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.502C>T (p.Arg168Trp) rs137852557 0.00001
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NM_000451.4(SHOX):c.670G>A (p.Ala224Thr) rs2052925859 0.00001
NC_000024.10:g.(651585_658784)_(659412_1759412)del
NC_000024.9:g.730550_778092del
NG_009385.2:g.(?_5001)_(40068_?)del
NM_000451.4(SHOX):c.-19G>A rs201157428
NM_000451.4(SHOX):c.181del (p.Glu61fs) rs2522084197
NM_000451.4(SHOX):c.236A>T (p.Lys79Met) rs1556457962
NM_000451.4(SHOX):c.250G>T (p.Glu84Ter) rs2124154821
NM_000451.4(SHOX):c.277+2dup rs2522085015
NM_000451.4(SHOX):c.38A>G (p.Asp13Gly) rs1334507288
NM_000451.4(SHOX):c.49A>T (p.Lys17Ter) rs2052635829
NM_000451.4(SHOX):c.506G>A (p.Arg169Lys) rs2052840553
NM_000451.4(SHOX):c.508G>C (p.Ala170Pro) rs397514461
NM_000451.4(SHOX):c.509C>A (p.Ala170Asp) rs397514462
NM_000451.4(SHOX):c.517C>T (p.Arg173Cys) rs137852556
NM_000451.4(SHOX):c.518G>A (p.Arg173His) rs746801054
NM_000451.4(SHOX):c.528G>C (p.Glu176Asp) rs778921118
NM_000451.4(SHOX):c.544+1G>A rs1057518701
NM_000451.4(SHOX):c.547G>C (p.Val183Leu) rs752189039
NM_000451.4(SHOX):c.597C>G (p.Tyr199Ter) rs137852553
NM_000451.4(SHOX):c.611C>T (p.Ala204Val)
NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup) rs747349135
NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1]) rs752208304
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3]) rs752208304
NM_000451.4(SHOX):c.675_676insA (p.Pro226fs) rs2522148028
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000451.4(SHOX):c.728dup (p.Pro244fs) rs757845999
NM_000451.4(SHOX):c.803A>G (p.Lys268Arg) rs1060499711
NM_000451.4(SHOX):c.805del (p.Ser269fs) rs1569495224
NM_000451.4(SHOX):c.83G>T (p.Gly28Val)
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_006883.2(SHOX):c.-645_-644insGTT rs1556450972

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