List of variants reported as pathogenic for popliteal pterygium syndrome by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001278.5(CHUK):c.934-2A>G	rs2134229666
NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile)	rs121434231
NM_006147.4(IRF6):c.1177C>T (p.Gln393Ter)	rs121434225
NM_006147.4(IRF6):c.1271C>T (p.Ser424Leu)	rs387906968
NM_006147.4(IRF6):c.1316T>C (p.Leu439Pro)	rs886038202
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)	rs121434226
NM_006147.4(IRF6):c.251G>A (p.Arg84His)	rs121434227
NM_006147.4(IRF6):c.251G>T (p.Arg84Leu)	rs121434227
NM_006147.4(IRF6):c.65T>C (p.Leu22Pro)	rs387906967
NM_020639.3(RIPK4):c.1074dup (p.Glu359Ter)	rs1569100177
NM_020639.3(RIPK4):c.1127C>A (p.Ser376Ter)	rs387906921
NM_020639.3(RIPK4):c.242T>A (p.Ile81Asn)	rs387906922
NM_020639.3(RIPK4):c.362T>A (p.Ile121Asn)	rs387906923
NM_020639.3(RIPK4):c.777dup (p.Arg260fs)

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