List of variants in gene HOXD13 reported as pathogenic for bone disorder

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala)	rs536639583	0.00154
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	rs200750564	0.00001
NM_000523.4(HOXD13):c.916C>T (p.Arg306Trp)	rs28933082	0.00001
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	rs756844068
NM_000523.4(HOXD13):c.209_210insGGCTGCGGCGGCGGCAGCGGC (p.Ala65_Ala71dup)	rs878854345
NM_000523.4(HOXD13):c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC (p.Ala63_Ala71dup)	rs775525473
NM_000523.4(HOXD13):c.323_336del (p.Pro108fs)	rs878854343
NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala)	rs121912541
NM_000523.4(HOXD13):c.683G>T (p.Gly228Val)	rs121912541
NM_000523.4(HOXD13):c.708del (p.Asn236fs)	rs2105379203
NM_000523.4(HOXD13):c.742C>T (p.Gln248Ter)	rs878854400
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)	rs1574943406
NM_000523.4(HOXD13):c.781+1G>A	rs886037831
NM_000523.4(HOXD13):c.782-2del	rs764838478
NM_000523.4(HOXD13):c.834del (p.Lys279fs)	rs878854344
NM_000523.4(HOXD13):c.916C>G (p.Arg306Gly)	rs28933082
NM_000523.4(HOXD13):c.917G>A (p.Arg306Gln)	rs879255265
NM_000523.4(HOXD13):c.974A>G (p.Gln325Arg)	rs104893635

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