ClinVar Miner

List of variants in gene HOXD13 reported as pathogenic for Brachydactyly type E1; Brachydactyly type D; Syndactyly type 5; Brachydactyly-syndactyly syndrome; Synpolydactyly type 1

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	rs200750564	0.00001
NM_000523.4(HOXD13):c.183_206dup (p.Ala64_Ala71dup)	rs756844068

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