List of variants reported as pathogenic for atelosteogenesis by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)	rs104893918	0.00003
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)	rs104893917	0.00003
NM_000112.4(SLC26A2):c.1535C>A (p.Thr512Lys)	rs121908078	0.00001
NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	rs386833498
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_001457.4(FLNB):c.2251G>C (p.Gly751Arg)	rs28937587
NM_001457.4(FLNB):c.517G>A (p.Ala173Thr)	rs587777259
NM_001457.4(FLNB):c.518C>T (p.Ala173Val)	rs121908894
NM_001457.4(FLNB):c.604A>G (p.Met202Val)	rs121908895

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