List of variants reported as pathogenic for brachydactyly type A2 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	rs28936683	0.00001
NC_000020.11:g.6879489_6885384dup
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	rs397514668
NM_001203.3(BMPR1B):c.1456C>T (p.Arg486Trp)	rs121434418
NM_001203.3(BMPR1B):c.1457G>A (p.Arg486Gln)	rs121434419
NM_001203.3(BMPR1B):c.599T>A (p.Ile200Lys)	rs121434417

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