List of variants studied for acrodysostosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=)	rs74863634	0.00405
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=)	rs372669687	0.00011
NM_002734.5(PRKAR1A):c.502+12_502+13del	rs764075585	0.00009
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys)	rs146383819	0.00006
NM_002734.5(PRKAR1A):c.549+20A>G	rs981055703	0.00004
NM_002734.5(PRKAR1A):c.1025G>A (p.Arg342His)	rs760033566	0.00001
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)	rs1555815121
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)	rs778468626
NM_002734.5(PRKAR1A):c.424GAT[1] (p.Asp143del)	rs1308936763
NM_002734.5(PRKAR1A):c.464C>T (p.Ser155Leu)	rs1568696484
NM_002734.5(PRKAR1A):c.503-13dup	rs138285568
NM_002734.5(PRKAR1A):c.550G>A (p.Val184Ile)	rs773162575
NM_002734.5(PRKAR1A):c.691T>C (p.Tyr231His)	rs2143324114
NM_002734.5(PRKAR1A):c.709-7_709-2del	rs281864801
NM_002734.5(PRKAR1A):c.797C>T (p.Thr266Met)	rs1329426125

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