List of variants reported as not provided for Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)	rs61739916	0.03133
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)	rs193922900
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)	rs193922900
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)	rs312262903
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)	rs312262899
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)	rs312262900
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)	rs312262900
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)	rs312262900
NM_000095.3(COMP):c.1760A>G (p.His587Arg)	rs312262901
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)	rs312262904
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	rs137852655

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