List of variants in gene SHOX reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_006883.2(SHOX):c.653G>A (p.Arg218His)	rs193072890	0.01306
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg)	rs778160013	0.00286
GRCh37/hg19 Xp22.33(chrX:358856-595561)x3
GRCh37/hg19 Xp22.33(chrX:585079-619564)x1
GRCh37/hg19 Xp22.33(chrX:591633-595561)x1
NM_000451.4(SHOX):c.242A>T (p.Lys81Ile)
NM_000451.4(SHOX):c.40C>T (p.Gln14Ter)	rs2124154022
NM_006883.2(SHOX):c.-646T>G

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