ClinVar Miner

List of variants in gene LOC107652445, SHOX studied for mesomelic dysplasia

Included ClinVar conditions (3):

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000451.4(SHOX):c.352_353dup (p.Arg119fs)	rs1569493663
NM_000451.4(SHOX):c.374C>G (p.Thr125Arg)
NM_000451.4(SHOX):c.389A>C (p.Asn130Thr)	rs2052712369
NM_000451.4(SHOX):c.419del (p.His140fs)

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