List of variants in gene HOXD13 reported as pathogenic by GeneDx

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_000523.4(HOXD13):c.183_203dup (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAla)	rs878854346
NM_000523.4(HOXD13):c.206_207insAGCGGCGGCTGCGGCGGCGGCAGC (p.Ala71_Ser72insAlaAlaAlaAlaAlaAlaAlaAla)	rs1553517123
NM_000523.4(HOXD13):c.684dup (p.Tyr229fs)	rs2468153773

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