List of variants reported as likely pathogenic for acromesomelic dysplasia

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)	rs1177728492	0.00001
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	rs1057519324	0.00001
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)	rs61758531	0.00001
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp)	rs1303913631	0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	rs1311857509	0.00001
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	rs370158184	0.00001
NM_000557.5(GDF5):c.1144del (p.Ala382fs)	rs1568731526
NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter)
NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg)	rs1734835445
NM_001203.3(BMPR1B):c.585+1G>C
NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)	rs1828089061
NM_003995.4(NPR2):c.1123+1G>C
NM_003995.4(NPR2):c.1218+4A>G
NM_003995.4(NPR2):c.1557+1G>A	rs2132081744
NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)	rs756858649
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	rs751324720
NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)	rs2132089495
NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)	rs2132090317
NM_003995.4(NPR2):c.2079del (p.Ser693fs)	rs2132090376
NM_003995.4(NPR2):c.2116G>C (p.Asp706His)	rs2132090468
NM_003995.4(NPR2):c.2713-2A>T	rs1563993649
NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	rs773934765
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	rs1828565145
NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)	rs753644648
NM_003995.4(NPR2):c.493del (p.Arg165fs)
NM_003995.4(NPR2):c.987+1G>C	rs1554672893
NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)

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