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

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006883.2(SHOX):c.-507G>C	rs111549748	0.28055
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)	rs137852552	0.00001
NC_000024.9:g.730550_778092del
NM_000451.4(SHOX):c.528G>C (p.Glu176Asp)	rs778921118
NM_000451.4(SHOX):c.544+1G>A	rs1057518701
NM_006883.2(SHOX):c.-512C>A	rs113313554
NM_006883.2(SHOX):c.-645_-644insGTT	rs1556450972

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