List of variants in gene HOXD13 studied for brachydactyly type E1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000523.4(HOXD13):c.204G>A (p.Ala68=)	rs2518053	0.43768
NM_000523.4(HOXD13):c.170C>T (p.Ala57Val)	rs755283984	0.00006
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.202G>C (p.Ala68Pro)	rs760168666
NM_000523.4(HOXD13):c.296C>G (p.Pro99Arg)	rs143487752
NM_000523.4(HOXD13):c.744_747del (p.Gln248fs)	rs1574943406

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