List of variants reported as pathogenic for obsolete acrodysostosis with multiple hormone resistance

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001104631.2(PDE4D):c.1759A>C (p.Thr587Pro)	rs397514467
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)	rs1554033934
NM_001104631.2(PDE4D):c.1952A>C (p.Glu651Ala)	rs387906744
NM_001104631.2(PDE4D):c.2018G>A (p.Gly673Asp)	rs397514469
NM_001104631.2(PDE4D):c.2033T>C (p.Ile678Thr)	rs587777188
NM_001104631.2(PDE4D):c.568T>G (p.Ser190Ala)	rs397514466
NM_001104631.2(PDE4D):c.673C>A (p.Pro225Thr)	rs397514464
NM_001104631.2(PDE4D):c.677T>C (p.Phe226Ser)	rs397514465
NM_001104631.2(PDE4D):c.677T>G (p.Phe226Cys)	rs397514465
NM_001104631.2(PDE4D):c.682C>G (p.Gln228Glu)	rs397514468
NM_001104631.2(PDE4D):c.911C>T (p.Ala304Val)	rs397515433
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
NM_002734.5(PRKAR1A):c.1004G>C (p.Arg335Pro)	rs387906694
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter)	rs387906692
NM_002734.5(PRKAR1A):c.1117T>C (p.Tyr373His)	rs387906693
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter)	rs886041228
NM_002734.5(PRKAR1A):c.709-7_709-2del	rs281864801
NM_002734.5(PRKAR1A):c.980T>C (p.Ile327Thr)	rs387906695

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