List of variants studied for brachydactyly type E1

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Total variants: 11

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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
GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3
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
NM_000523.4(HOXD13):c.947C>G (p.Ser316Cys)	rs28928892
NM_000523.4(HOXD13):c.964A>C (p.Ile322Leu)	rs28928891

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