ClinVar Miner

List of variants in gene SHOX reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_006883.2(SHOX):c.-432-3C>A rs1030279647 0.00016
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter) rs137852552 0.00001
NC_000024.10:g.(651585_658784)_(659412_1759412)del
NC_000024.9:g.730550_778092del
NG_009385.2:(?_5001)_(40068_?)del
NM_000451.4(SHOX):c.-19G>A rs201157428
NM_000451.4(SHOX):c.181del (p.Glu61fs)
NM_000451.4(SHOX):c.502C>T (p.Arg168Trp) rs137852557
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.597C>G (p.Tyr199Ter) rs137852553
NM_000451.4(SHOX):c.670G>A (p.Ala224Thr) rs2052925859
NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1]) rs752208304
NM_000451.4(SHOX):c.728del (p.Pro243fs) rs757845999
NM_000451.4(SHOX):c.728dup (p.Pro244fs) rs757845999
NM_000451.4(SHOX):c.805del (p.Ser269fs) rs1569495224
NM_000451.4(SHOX):c.877T>C (p.Ter293Arg) rs137852559
NM_006883.2(SHOX):c.-512C>A rs113313554
NM_006883.2(SHOX):c.-645_-644insGTT rs1556450972

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